Allele Registry

Canonical Allele Identifier: PA2580257230

Gene: CAT HGNC NCBI

ClinVar Allele:

2449656

ClinVar RCV:

RCV004268568

ClinVar Variation:

2473522

HGVS (amino-acid)	Matching Registered Transcripts
NP_001743.1:p.Gly216Val	CA380039725 NM_001752.3:c.647G>T