ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913197797
Gene: EHHADH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000729080
RCV003947917
ClinVar Variation:
593909
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001957.2:p.Ala336Thr
CA2739059
NM_001966.4:c.1006G>A