Allele Registry

Canonical Allele Identifier: PA645427414

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000757401

RCV001166669

RCV002291611

RCV004020902

ClinVar Variation:

242293

HGVS (amino-acid)	Matching Registered Transcripts
NP_003631.2:p.Arg942Gln	CA5174526 NM_003640.5:c.2825G>A