Allele Registry

Canonical Allele Identifier: PA645427458

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000659118

RCV001166178

RCV004020903

ClinVar Variation:

242294

HGVS (amino-acid)	Matching Registered Transcripts
NP_003631.2:p.Arg1094Gly	CA5174360 NM_003640.5:c.3280A>G