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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:
PA2826376458
Gene: ANKRD11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2053858
ClinVar RCV Id:
RCV002922831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243112.1:p.Val2410Met
CA397148862
NM_001256183.2:c.7228G>A