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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:
PA2825902792
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2539950
ClinVar RCV Id:
RCV004309578
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139.3:p.Asp2746Ala
CA357933538
NM_001148.6:c.8237A>C