Allele Registry

Canonical Allele Identifier: PA2828374940

Gene: SLC52A3 HGNC NCBI

ClinVar RCV:

RCV000000165

ClinVar Variation:

142

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357014.1:p.Phe224Leu	CA339795 NM_001370085.1:c.670T>C CA407963344 NM_001370085.1:c.672C>G CA407963345 NM_001370085.1:c.672C>A