ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA312532
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000185893
RCV001827992
RCV002517823
ClinVar Variation:
203716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004444.2:p.Ala245Thr
CA312531
NM_004453.4:c.733G>A