Canonical Allele Identifier: PA2579794729
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Met126Leu
CA410601839
NM_000071.3:c.376A>T
CA410601841
NM_000071.3:c.376A>C
CA2579805806
NM_000071.3:c.376_378delinsCTT