Allele Registry

Canonical Allele Identifier: PA658810762

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000630680

RCV001276242

RCV004025383

ClinVar Variation:

526183

HGVS (amino-acid)	Matching Registered Transcripts
NP_003631.2:p.Val347Leu	CA5175144 NM_003640.5:c.1039G>T CA374429540 NM_003640.5:c.1039G>C