ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826088944
Gene: PDHA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000486536
ClinVar Variation:
418402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166927.1:p.Ile218Ser
CA16621291
NM_001173456.2:c.653T>G