Canonical Allele Identifier: PA2579794681
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu124Ser
CA2579807916
NM_000071.3:c.370_371delinsTC
CA2579807918
NM_000071.3:c.370_372delinsTCT