Canonical Allele Identifier: PA2579794098
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Val10Ile
CA2579803368
NM_000071.3:c.28_30delinsATC
CA2579803369
NM_000071.3:c.28_30delinsATT