Allele Registry

Canonical Allele Identifier: PA645427480

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000245565

RCV000268649

RCV000860288

ClinVar Variation:

259113

HGVS (amino-acid)	Matching Registered Transcripts
NP_003631.2:p.Pro1158Leu	CA5174286 NM_003640.5:c.3473C>T