Allele Registry

Canonical Allele Identifier: PA2827346248

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000214808

RCV000316773

RCV000724344

ClinVar Variation:

194739

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317678.1:p.Arg280His	CA240882 NM_001330749.2:c.839G>A