ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1492572208
Gene:
Linked Data - NCBI & NCI
dbSNP:
724950
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.127420965T>A , CM000666.2:g.127420965T>A
GRCh38
NC_000004.11:g.128342120T>A , CM000666.1:g.128342120T>A
GRCh37
NC_000004.10:g.128561570T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001741824.2:n.109-5803A>T
Search 100 bp 5'
Search 100 bp 3'