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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:
CA1437865395
Gene:
Linked Data
dbSNP Id:
rs1714442195
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.10124267dup , CM000666.2:g.10124267dup
GRCh38
NC_000004.11:g.10125891dup , CM000666.1:g.10125891dup
GRCh37
NC_000004.10:g.9734989dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'