Canonical Allele Identifier: PA2579801340
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile437Ser
CA410397068
NM_000071.3:c.1310T>G
CA2579808072
NM_000071.3:c.1309_1311delinsTCG
CA2579808073
NM_000071.3:c.1310_1311delinsGT
CA2579808075
NM_000071.3:c.1309_1311delinsTCT