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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:
CA1320446128
Gene:
Linked Data
dbSNP Id:
rs1051503545
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.200033135dup , CM000664.2:g.200033135dup
GRCh38
NC_000002.11:g.200897858dup , CM000664.1:g.200897858dup
GRCh37
NC_000002.10:g.200606103dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_923778.1:n.178-22234dup
Search 100 bp 5'
Search 100 bp 3'