Canonical Allele Identifier: PA2827058509
Gene: ETHE1 HGNC NCBI
ClinVar RCV:
RCV001245036
ClinVar Variation:
969644
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001307796.1:p.Asp185Val
CA308741522
NM_001320867.2:c.554A>T