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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:
PA2829094367
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
180274
ClinVar RCV Id:
RCV000157113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373086.1:p.Gly1520del
CA346180
NM_001386157.1:c.4559_4561del