Allele Registry

Canonical Allele Identifier: PA2827346052

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000227222

RCV001276239

RCV003230264

RCV004020906

ClinVar Variation:

242315

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317678.1:p.Asp106Gly	CA5175034 NM_001330749.2:c.317A>G