Canonical Allele Identifier: PA2827058589
Gene: ETHE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2317
ClinVar RCV Id: RCV000002407
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307797.1:p.Arg40Trp
CA115479
NM_001320868.2:c.118C>T