ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA129835
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
31601
ClinVar RCV Id:
RCV000024305
RCV000210651
RCV000578325
RCV001814011
RCV001831605
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004444.2:p.Leu377Pro
CA129834
NM_004453.4:c.1130T>C