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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:
PA2829099994
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191195
ClinVar RCV Id:
RCV000171381
RCV001087082
RCV001194187
RCV002426815
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001373095.1:p.His1575Arg