ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826593286
Gene: ETFDH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000185892
RCV001079922
RCV001199401
RCV003937656
ClinVar Variation:
203715
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268666.1:p.Gly144Asp
CA312529
NM_001281737.2:c.431G>A