ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499229519
Gene: HADHA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1216147
ClinVar RCV Id:
RCV001593810
RCV001827528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000173.2:p.Thr395Asn
CA1559649
NM_000182.5:c.1184C>A