Canonical Allele Identifier: PA2579794267
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu104Thr
CA2579810836
NM_000071.3:c.310_312delinsACT
CA2579810839
NM_000071.3:c.310_311delinsAC