Canonical Allele Identifier: PA2579802487
Gene: CBS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000062.1:p.Ile490Thr
CA410395904
NM_000071.3:c.1469T>C
CA2579807967
NM_000071.3:c.1469_1470delinsCT