ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA129837
Gene: ETFDH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000024306
RCV000634896
RCV001250164
RCV001831606
RCV002054473
ClinVar Variation:
31602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004444.2:p.Pro483Leu
CA129836
NM_004453.4:c.1448C>T