Canonical Allele Identifier: PA2579793631
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro74Val
CA2579804796
NM_000071.3:c.220_222delinsGTG
CA2579804797
NM_000071.3:c.220_222delinsGTT