Allele Registry

Canonical Allele Identifier: PA2827058586

Gene: ETHE1 HGNC NCBI

ClinVar RCV:

RCV000599431

ClinVar Variation:

504500

HGVS (amino-acid)	Matching Registered Transcripts
NP_001307797.1:p.Arg40Gly	CA406175476 NM_001320868.2:c.118C>G