Canonical Allele Identifier: CA1818149230
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999342T= , CM000670.2:g.126999342T= GRCh38
NC_000008.10:g.128011587T= , CM000670.1:g.128011587T= GRCh37
NC_000008.9:g.128080769T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001746076.2:n.1301-7213T=