Canonical Allele Identifier: PA2579798704
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val314Ala
CA410599956
NM_000071.3:c.941T>C
CA2579803201
NM_000071.3:c.941_942delinsCT