ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139679450
Gene: HADHA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
940137
ClinVar RCV Id:
RCV001209662
RCV001812253
RCV001836150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000173.2:p.Val381Met
CA1559657
NM_000182.5:c.1141G>A