Allele Registry

Canonical Allele Identifier: PA645427293

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000302687

RCV000493897

RCV002488820

RCV003330656

ClinVar Variation:

364577

HGVS (amino-acid)	Matching Registered Transcripts
NP_003631.2:p.Pro316Leu	CA5175187 NM_003640.5:c.947C>T