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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:
CA1740470084
Gene:
Linked Data
dbSNP Id:
rs1795645595
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.124306266dup , CM000669.2:g.124306266dup
GRCh38
NC_000007.13:g.123946320dup , CM000669.1:g.123946320dup
GRCh37
NC_000007.12:g.123733556dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_002956584.1:n.73-212dup
Search 100 bp 5'
Search 100 bp 3'