Canonical Allele Identifier: PA2579801577
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val448Ser
CA2579803010
NM_000071.3:c.1342_1344delinsAGT
CA2579803337
NM_000071.3:c.1342_1343delinsTC
CA2579803339
NM_000071.3:c.1342_1344delinsTCT