ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825658702
Gene: ETFA
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000185869
RCV000527908
RCV003977491
ClinVar Variation:
203692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121188.1:p.Ile227Leu
CA312487
NM_001127716.2:c.679A>C