Allele Registry

Canonical Allele Identifier: PA916024659

Gene: ETHE1 HGNC NCBI

ClinVar RCV:

RCV000276936

ClinVar Variation:

214322

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307798.1:p.Arg65Gln	CA320215 NM_001320869.2:c.194G>A