Allele Registry

Canonical Allele Identifier: PA645427243

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000278649

RCV000287654

RCV004021176

ClinVar Variation:

285240

HGVS (amino-acid)	Matching Registered Transcripts
NP_003631.2:p.Arg70Cys	CA5175431 NM_003640.5:c.208C>T