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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:
PA2827814854
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1798549
ClinVar RCV Id:
RCV002435520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341189.1:p.Gln1568Lys
CA3052249
NM_001354260.2:c.4702C>A