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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:
CA2708023607
Gene:
Linked Data
dbSNP Id:
rs2111302794
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.188940027_188940028dup , CM000666.2:g.188940027_188940028dup
GRCh38
NC_000004.11:g.189861181_189861182dup , CM000666.1:g.189861181_189861182dup
GRCh37
NC_000004.10:g.190098175_190098176dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'