Canonical Allele Identifier: PA2579793799
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys82Ser
CA2579806047
NM_000071.3:c.244_246delinsTCT
CA2579813515
NM_000071.3:c.245_246delinsGT