ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA312488
Gene: ETFA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203692
ClinVar RCV Id:
RCV000185869
RCV000527908
RCV003977491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000117.1:p.Ile276Leu
CA312487
NM_000126.4:c.826A>C