Allele Registry

Canonical Allele Identifier: PA645427247

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000384303

RCV000858275

RCV001271221

RCV003922639

ClinVar Variation:

364581

HGVS (amino-acid)	Matching Registered Transcripts
NP_003631.2:p.Arg70His	CA5175430 NM_003640.5:c.209G>A