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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:
PA2825350812
Gene: INF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1053
ClinVar RCV Id:
RCV000001108
RCV001380435
RCV002293971
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026884.3:p.Arg214His
CA114725
NM_001031714.3:c.641G>A