ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827058487
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_001307796.1:p.Asp154Gly
CA9487848
NM_001320867.2:c.461A>G