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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:
PA2829072006
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
379341
ClinVar RCV Id:
RCV000863035
RCV000621809
RCV001145634
RCV000852974
RCV001720017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373071.1:p.Arg2669His
CA3051736
NM_001386142.1:c.8006G>A