ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA312478
Gene: ETFA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203687
ClinVar RCV Id:
RCV000320514
RCV000726964
RCV003917703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000117.1:p.Thr178Arg
CA312477
NM_000126.4:c.533C>G