Allele Registry

Canonical Allele Identifier: PA645427302

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000630703

RCV000780354

RCV001168463

RCV001276240

ClinVar Variation:

372384

HGVS (amino-acid)	Matching Registered Transcripts
NP_003631.2:p.Arg405Trp	CA5175080 NM_003640.5:c.1213C>T