ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2001193221
Gene:
Linked Data - NCBI & NCI
dbSNP:
6589377
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113485014G>T , CM000673.2:g.113485014G>T
GRCh38
NC_000011.9:g.113355736G>T , CM000673.1:g.113355736G>T
GRCh37
NC_000011.8:g.112860946G>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_948024.2:n.378+5388C>A
Search 100 bp 5'
Search 100 bp 3'