Allele Registry

Canonical Allele Identifier: PA2827346363

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV001241330

RCV001835098

RCV002491803

RCV004034676

ClinVar Variation:

966606

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317678.1:p.Arg347Gln	CA5174778 NM_001330749.2:c.1040G>A