Canonical Allele Identifier: PA2579795759
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser175Pro
CA410601293
NM_000071.3:c.523T>C
CA2579804691
NM_000071.3:c.523_525delinsCCT