Allele Registry

Canonical Allele Identifier: PA645427240

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000345015

RCV000863374

RCV004022103

ClinVar Variation:

364582

HGVS (amino-acid)	Matching Registered Transcripts
NP_003631.2:p.Ser68Ile	CA5175432 NM_003640.5:c.203G>T