ClinGen Allele Registry
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Canonical Allele Identifier:
PA312546
Gene: ETFDH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
200077
ClinVar RCV:
RCV000185900
RCV000660476
ClinVar Variation:
203723
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004444.2:p.His459Tyr
CA312545
NM_004453.4:c.1375C>T