Canonical Allele Identifier: PA2579798969
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Pro33Ile
CA2579805264
NM_000071.3:c.97_98delinsAT
CA2579813484
NM_000071.3:c.97_99delinsATT