Canonical Allele Identifier: PA2579793695
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu77Val
CA410602168
NM_000071.3:c.229T>G
CA2579806884
NM_000071.3:c.229_231delinsGTA
CA2579806885
NM_000071.3:c.229_231delinsGTT