Canonical Allele Identifier: PA2579801385
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Arg439Ser
CA2579811942
NM_000071.3:c.1315_1317delinsTCT
CA2579811943
NM_000071.3:c.1315_1317delinsAGT