ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1888360488
Gene:
Linked Data - NCBI & NCI
dbSNP:
12570744
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.6747501C>G , CM000672.2:g.6747501C>G
GRCh38
NC_000010.10:g.6789463C>G , CM000672.1:g.6789463C>G
GRCh37
NC_000010.9:g.6829469C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930621.1:n.314-1438G>C
Search 100 bp 5'
Search 100 bp 3'