ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA102026
Gene: HADHA
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000009266
RCV000009267
RCV000174836
RCV000185933
RCV000535911
RCV000624767
RCV000778608
RCV001001910
ClinVar Variation:
100085
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000173.2:p.Glu510Gln
CA119870
NM_000182.5:c.1528G>C