Canonical Allele Identifier: PA2579794053
Gene: CBS HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys94Val
CA2579806020
NM_000071.3:c.280_282delinsGTT
CA2579806022
NM_000071.3:c.280_281delinsGT