ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916024657
Gene: ETHE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2317
ClinVar RCV Id:
RCV000002407
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307798.1:p.Arg65Trp
CA115479
NM_001320869.2:c.193C>T