ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825140336
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
992715
ClinVar RCV Id:
RCV001281432
RCV001871632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000275.1:p.Glu334Lys
CA412396285
NM_000284.4:c.1000G>A