Canonical Allele Identifier: PA2579796884
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro229Ala
CA410600613
NM_000071.3:c.685C>G
CA2579806580
NM_000071.3:c.685_687delinsGCT