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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:
PA645504564
Gene: ACTN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
384968
ClinVar RCV Id:
RCV000422736
RCV001058529
RCV002379341
RCV002488926
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001094.1:p.Ala432Val
CA1473113
NM_001103.4:c.1295C>T