Allele Registry

Canonical Allele Identifier: PA320463

Gene: ETHE1 HGNC NCBI

ClinVar RCV:

RCV000196062

RCV000273437

RCV003927839

ClinVar Variation:

214324

HGVS (amino-acid)	Matching Registered Transcripts
NP_055112.2:p.Ser93Phe	CA320462 NM_014297.5:c.278C>T