Allele Registry

Canonical Allele Identifier: PA645427489

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000355008

RCV000757404

RCV004022089

ClinVar Variation:

364552

HGVS (amino-acid)	Matching Registered Transcripts
NP_003631.2:p.Asn1290Ser	CA5174147 NM_003640.5:c.3869A>G