ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827058648
Gene: ETHE1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000815727
ClinVar Variation:
658833
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307797.1:p.Ala131Val
CA406174565
NM_001320868.2:c.392C>T