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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:
PA2827841135
Gene: KANK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
402188
ClinVar RCV Id:
RCV000454209
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341263.1:p.Ile1079Met
CA16609520
NM_001354334.2:c.3237C>G