Canonical Allele Identifier: PA2579795814
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val178Gly
CA410601206
NM_000071.3:c.533T>G
CA2579803302
NM_000071.3:c.533_534delinsGT