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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:
PA2827831713
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2014830
ClinVar RCV Id:
RCV002839160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341204.1:p.Glu1026Lys
CA357935863
NM_001354275.2:c.3076G>A