Allele Registry

Canonical Allele Identifier: PA2826988227

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000302687

RCV000493897

RCV002488820

RCV003330656

ClinVar Variation:

364577

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305289.1:p.Pro202Leu	CA5175187 NM_001318360.2:c.605C>T