ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024662
Gene: ETHE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30725
ClinVar RCV Id:
RCV000023703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307798.1:p.Leu87Arg
CA129416
NM_001320869.2:c.260T>G