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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:
PA2827826409
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67599
ClinVar RCV Id:
RCV000589585
RCV000620213
RCV000852980
RCV001150178
RCV001085479
RCV001841765
RCV001256867
RCV003974947
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341199.1:p.Val1474Asp
CA145025
NM_001354270.2:c.4421T>A