ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825140272
Gene: PDHA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000822565
ClinVar Variation:
664466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000275.1:p.Ala236Val
CA412394585
NM_000284.4:c.707C>T