ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825658693
Gene: ETFA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2594
ClinVar RCV Id:
RCV000002712
RCV000185868
RCV000332032
RCV003904798
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121188.1:p.Thr217Met
CA115638
NM_001127716.2:c.650C>T