Canonical Allele Identifier: PA2579792226
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu504Asp
CA410395714
NM_000071.3:c.1512G>T
CA410395717
NM_000071.3:c.1512G>C