Allele Registry

Canonical Allele Identifier: PA240884

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000214808

RCV000316773

RCV000724344

ClinVar Variation:

194739

HGVS (amino-acid)	Matching Registered Transcripts
NP_003631.2:p.Arg629His	CA240882 NM_003640.5:c.1886G>A