Canonical Allele Identifier: PA2579800917
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu417Arg
CA410397378
NM_000071.3:c.1250T>G
CA2579807356
NM_000071.3:c.1249_1250delinsAG