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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:
PA2825350740
Gene: INF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1344641
ClinVar RCV Id:
RCV001849642
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026884.3:p.Val181Gly
CA391213230
NM_001031714.3:c.542T>G