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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:
CA2550151124
Gene: BDNF-AS
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.27654049del , CM000673.2:g.27654049del
GRCh38
NC_000011.9:g.27675596del , CM000673.1:g.27675596del
GRCh37
NC_000011.8:g.27632172del
NCBI36
NG_011794.1:g.73008del
Transcript Alleles
HGVS
Amino-acid Change
NR_002832.2:n.375-4192del
NR_033312.1:n.306-4192del
NR_033313.1:n.306-4192del
NR_033314.1:n.375-4192del
NR_033315.1:n.306-4192del
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