ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827058588
Gene: ETHE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214322
ClinVar RCV Id:
RCV000276936
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307797.1:p.Arg40Gln
CA320215
NM_001320868.2:c.119G>A