Canonical Allele Identifier: PA2579801585
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val448Leu
CA321687970
NM_000071.3:c.1342G>T
CA410396926
NM_000071.3:c.1342G>C
CA2579803342
NM_000071.3:c.1342_1344delinsCTT