ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658812354
Gene: EHHADH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501508
ClinVar RCV Id:
RCV000596768
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001957.2:p.Val472Leu
CA355677564
NM_001966.4:c.1414G>C