Allele Registry

Canonical Allele Identifier: PA2826988360

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000227222

RCV001276239

RCV003230264

RCV004020906

ClinVar Variation:

242315

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305289.1:p.Asp341Gly	CA5175034 NM_001318360.2:c.1022A>G