Canonical Allele Identifier: CA2581426690
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74554070A>C , CM000666.2:g.74554070A>C GRCh38
NC_000004.11:g.75419787A>C , CM000666.1:g.75419787A>C GRCh37

Transcript Alleles

HGVS Amino-acid Change
XR_001741513.1:n.167-1238T>G