ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645454229
Gene: PDHA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000435734
ClinVar Variation:
388168
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000275.1:p.Val342Gly
CA16608807
NM_000284.4:c.1025T>G