Allele Registry

Canonical Allele Identifier: PA2826988508

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000214808

RCV000316773

RCV000724344

ClinVar Variation:

194739

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305289.1:p.Arg515His	CA240882 NM_001318360.2:c.1544G>A