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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:
PA2827826130
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1429246
ClinVar RCV Id:
RCV001967202
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341199.1:p.Arg1013Gln
CA357935972
NM_001354270.2:c.3038G>A