ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826594875
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_001268667.1:p.His398Tyr
CA312545
NM_001281738.1:c.1192C>T