Allele Registry

Canonical Allele Identifier: PA253771

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000006460

RCV000789661

ClinVar Variation:

6087

HGVS (amino-acid)	Matching Registered Transcripts
NP_003631.2:p.Pro914Leu	CA253769 NM_003640.5:c.2741C>T