ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645467921
Gene: ETFA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235646
ClinVar RCV Id:
RCV000224700
RCV001081384
RCV001272688
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000117.1:p.Ile148Val
CA7673764
NM_000126.4:c.442A>G