Allele Registry

Canonical Allele Identifier: PA1139718365

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV001241330

RCV001835098

RCV002491803

RCV004034676

ClinVar Variation:

966606

HGVS (amino-acid)	Matching Registered Transcripts
NP_003631.2:p.Arg696Gln	CA5174778 NM_003640.5:c.2087G>A