Canonical Allele Identifier: PA2579796538
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Asn212Tyr
CA410600853
NM_000071.3:c.634A>T
CA2579812275
NM_000071.3:c.634_636delinsTAT