Allele Registry

Canonical Allele Identifier: PA916013119

Gene: ETHE1 HGNC NCBI

ClinVar RCV:

RCV000815727

ClinVar Variation:

658833

HGVS (amino-acid)	Matching Registered Transcripts
NP_055112.2:p.Ala254Val	CA406174565 NM_014297.5:c.761C>T