Canonical Allele Identifier: PA2579792242
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Met505Ser
CA2579806312
NM_000071.3:c.1513_1514delinsTC
CA2579806313
NM_000071.3:c.1513_1515delinsTCT
CA2579806314
NM_000071.3:c.1514_1515delinsGT