Canonical Allele Identifier: CA1468682194
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.74554151C= , CM000666.2:g.74554151C= GRCh38
NC_000004.11:g.75419868C= , CM000666.1:g.75419868C= GRCh37
NC_000004.10:g.75638732C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741513.1:n.167-1319G=