Allele Registry

Canonical Allele Identifier: PA2827346653

Gene: ELP1 HGNC NCBI

ClinVar RCV:

RCV000006460

RCV000789661

ClinVar Variation:

6087

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317678.1:p.Pro565Leu	CA253769 NM_001330749.2:c.1694C>T