Allele Registry

Canonical Allele Identifier: PA2826988250

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000630680

RCV001276242

RCV004025383

ClinVar Variation:

526183

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305289.1:p.Val233Leu	CA5175144 NM_001318360.2:c.697G>T CA374429540 NM_001318360.2:c.697G>C