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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA219851646
Gene: BDNF-AS
HGNC
NCBI
Linked Data
dbSNP Id:
rs755315077
gnomAD v3:
11-27654035-ATGTG-A
gnomAD v4:
11-27654035-ATGTG-A
MyVariant Identifiers:
chr11:g.27675583_27675586del (hg19)
chr11:g.27654036_27654039del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.27654039_27654042del , CM000673.2:g.27654039_27654042del
GRCh38
NC_000011.9:g.27675586_27675589del , CM000673.1:g.27675586_27675589del
GRCh37
NC_000011.8:g.27632162_27632165del
NCBI36
NG_011794.1:g.73018_73021del
Transcript Alleles
HGVS
Amino-acid Change
NR_002832.2:n.375-4202_375-4199del
NR_033312.1:n.306-4202_306-4199del
NR_033313.1:n.306-4202_306-4199del
NR_033314.1:n.375-4202_375-4199del
NR_033315.1:n.306-4202_306-4199del
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