Allele Registry

Canonical Allele Identifier: PA346930

Gene: SLC40A1 HGNC NCBI

ClinVar RCV:

RCV000190908

RCV000467098

ClinVar Variation:

208986

333167

HGVS (amino-acid)	Matching Registered Transcripts
NP_055400.1:p.Gln248His	CA2024169 NM_014585.6:c.744G>T CA349988525 NM_014585.6:c.744G>C