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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:
PA2827822493
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190552
ClinVar RCV Id:
RCV000170682
RCV003398876
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341196.1:p.Ser617Phe
CA300820
NM_001354267.2:c.1850C>T