Allele Registry

Canonical Allele Identifier: PA2826988753

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000006460

RCV000789661

ClinVar Variation:

6087

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305289.1:p.Pro800Leu	CA253769 NM_001318360.2:c.2399C>T