Allele Registry

Canonical Allele Identifier: PA916028617

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000630703

RCV000780354

RCV001168463

RCV001276240

ClinVar Variation:

372384

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317678.1:p.Arg56Trp	CA5175080 NM_001330749.2:c.166C>T