Allele Registry

Canonical Allele Identifier: PA916028627

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000245565

RCV000268649

RCV000860288

ClinVar Variation:

259113

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317678.1:p.Pro809Leu	CA5174286 NM_001330749.2:c.2426C>T