Canonical Allele Identifier: CA1818149538
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.126999554T= , CM000670.2:g.126999554T= GRCh38
NC_000008.10:g.128011799T= , CM000670.1:g.128011799T= GRCh37
NC_000008.9:g.128080981T= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_001746076.2:n.1301-7001T=