Canonical Allele Identifier: PA2579794203
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Leu101Arg
CA410602008
NM_000071.3:c.302T>G
CA2579808311
NM_000071.3:c.301_302delinsAG
CA2579808312
NM_000071.3:c.302_303delinsGT