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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:
PA2827762466
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67597
ClinVar RCV Id:
RCV000058342
RCV000170658
RCV000171796
RCV000618704
RCV001150176
RCV001705712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341164.1:p.Leu1535Val
CA199905
NM_001354235.2:c.4603C>G