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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:
CA847146613
Gene: PRNCR1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1391610923
gnomAD v3:
8-127091629-AT-A
gnomAD v4:
8-127091629-AT-A
MyVariant Identifiers:
chr8:g.128103875del (hg19)
chr8:g.127091630del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127091630del , CM000670.2:g.127091630del
GRCh38
NC_000008.10:g.128103875del , CM000670.1:g.128103875del
GRCh37
NC_000008.9:g.128173057del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_109833.1:n.11757del
Search 100 bp 5'
Search 100 bp 3'