ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827058593
Gene: ETHE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435094
ClinVar RCV Id:
RCV000501489
RCV000523639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307797.1:p.Asp42Gly
CA9487848
NM_001320868.2:c.125A>G