ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826031823
Gene: EHHADH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
593909
ClinVar RCV Id:
RCV000729080
RCV003947917
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159887.1:p.Ala240Thr
CA2739059
NM_001166415.2:c.718G>A