ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826031872
Gene: EHHADH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501138
ClinVar RCV Id:
RCV000598312
RCV000969464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159887.1:p.Arg506Gln
CA2738920
NM_001166415.2:c.1517G>A