Canonical Allele Identifier: PA2579793822
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Lys83Val
CA2579806038
NM_000071.3:c.247_249delinsGTT
CA2579806039
NM_000071.3:c.247_249delinsGTG