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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:
PA2829107373
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
519481
ClinVar RCV Id:
RCV000619233
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373116.1:p.Lys1045Glu
CA357935992
NM_001386187.2:c.3133A>G