ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA312482
Gene: ETFA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000117.1:p.Pro7Leu
CA312481
NM_000126.4:c.20C>T