Canonical Allele Identifier: PA2579791931
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile490Asn
CA410395902
NM_000071.3:c.1469T>A
CA2579807982
NM_000071.3:c.1469_1470delinsAT