Allele Registry

Canonical Allele Identifier: PA2826988581

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV001241330

RCV001835098

RCV002491803

RCV004034676

ClinVar Variation:

966606

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305289.1:p.Arg582Gln	CA5174778 NM_001318360.2:c.1745G>A