Canonical Allele Identifier: PA2827058421
Gene: ETHE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 214324
ClinVar RCV Id: RCV000196062 RCV000273437 RCV003927839
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307796.1:p.Ser82Phe
CA320462
NM_001320867.2:c.245C>T