ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1468679202
Gene:
Linked Data - NCBI & NCI
dbSNP:
62314947
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.74577305C>G , CM000666.2:g.74577305C>G
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
XR_001741513.1:n.166+6710G>C
Search 100 bp 5'
Search 100 bp 3'