Canonical Allele Identifier: PA2579792372
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val511Ser
CA2579802849
NM_000071.3:c.1531_1532delinsTC
CA2579802850
NM_000071.3:c.1531_1533delinsAGT
CA2579802851
NM_000071.3:c.1531_1533delinsTCT