Canonical Allele Identifier: PA2579801042
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu423Ser
CA2579807323
NM_000071.3:c.1267_1269delinsTCT
CA2579807324
NM_000071.3:c.1267_1268delinsTC