Allele Registry

Canonical Allele Identifier: PA2826988914

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000245565

RCV000268649

RCV000860288

ClinVar Variation:

259113

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305289.1:p.Pro1044Leu	CA5174286 NM_001318360.2:c.3131C>T