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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915992917
Gene: PDHA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432213
ClinVar RCV Id:
RCV000498478
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001166925.1:p.Glu175Lys
CA412391372
NM_001173454.2:c.523G>A