ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2096716578
Gene:
Linked Data - NCBI & NCI
dbSNP:
2204037
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.62862667A>T , CM000675.2:g.62862667A>T
GRCh38
NC_000013.10:g.63436800A>T , CM000675.1:g.63436800A>T
GRCh37
NC_000013.9:g.62334801A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_942013.1:n.292-23414T>A
Search 100 bp 5'
Search 100 bp 3'