ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825658641
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_001121188.1:p.Thr129Arg
CA312477
NM_001127716.2:c.386C>G