Canonical Allele Identifier: PA2579801342
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile437Arg
CA2579808091
NM_000071.3:c.1310_1311delinsGG
CA2579808093
NM_000071.3:c.1309_1311delinsCGG
CA2579808094
NM_000071.3:c.1309_1311delinsCGT