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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:
PA2828071621
Gene: GDAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2432092
ClinVar RCV Id:
RCV003135349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349858.1:p.Val110Ile
CA4785156
NM_001362929.2:c.328G>A