Canonical Allele Identifier: CA1595576560
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.160484499C= , CM000667.2:g.160484499C= GRCh38
NC_000005.9:g.159911506C= , CM000667.1:g.159911506C= GRCh37
NC_000005.8:g.159844084C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_132748.1:n.191-800C=