Allele Registry

Canonical Allele Identifier: PA2829462756

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV001047302

RCV001275744

ClinVar Variation:

844456

HGVS (amino-acid)	Matching Registered Transcripts
NP_003631.2:p.Asn1027Asp	CA5174438 NM_003640.5:c.3079A>G