Canonical Allele Identifier: PA2579793836
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Glu9Arg
CA2579810149
NM_000071.3:c.25_27delinsCGG
CA2579810150
NM_000071.3:c.25_27delinsAGG
CA2579810153
NM_000071.3:c.25_27delinsCGT