ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139696927
Gene: ETHE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
969644
ClinVar RCV Id:
RCV001245036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307798.1:p.Asp98Val
CA308741522
NM_001320869.2:c.293A>T