Allele Registry

Canonical Allele Identifier: PA2499256848

Gene: SLC17A5 HGNC NCBI

ClinVar RCV:

RCV001579128

RCV001579129

ClinVar Variation:

1209792

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369560.1:p.Trp247Leu	CA364716334 NM_001382631.1:c.740G>T