Canonical Allele Identifier: PA2579794480
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro2Arg
CA410602636
NM_000071.3:c.5C>G
CA2579805437
NM_000071.3:c.4_6delinsAGG
CA2579805438
NM_000071.3:c.5_6delinsGC
CA2579805439
NM_000071.3:c.5_6delinsGG
CA2579805440
NM_000071.3:c.5_6delinsGA