Canonical Allele Identifier: PA2579796935
Gene: CBS HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ala231Gly
CA410600589
NM_000071.3:c.692C>G
CA2579813042
NM_000071.3:c.692_693delinsGG