ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1748500680
Gene:
Linked Data - NCBI & NCI
dbSNP:
11982969
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.142490201C>G , CM000669.2:g.142490201C>G
GRCh38
NC_000007.12:g.141858674C>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001745389.1:n.76-21890G>C
XR_001745390.1:n.61+9983G>C
XR_002956589.1:n.76-21890G>C
Search 100 bp 5'
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