Canonical Allele Identifier: PA2579795756
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ser175Cys
CA410601288
NM_000071.3:c.524C>G
CA2579804728
NM_000071.3:c.524_525delinsGT