Canonical Allele Identifier: PA2579792074
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Gly497Arg
CA410395820
NM_000071.3:c.1489G>C
CA2579808962
NM_000071.3:c.1489_1491delinsAGG