Allele Registry

Canonical Allele Identifier: PA2826989032

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000355008

RCV000757404

RCV004022089

ClinVar Variation:

364552

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305289.1:p.Asn1176Ser	CA5174147 NM_001318360.2:c.3527A>G