Canonical Allele Identifier: PA2579798780
Gene: CBS HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg317Gly
CA321091261
NM_000071.3:c.949A>G
CA2579812998
NM_000071.3:c.949_951delinsGGT