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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:
PA2825447957
Gene: INSR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1510305
ClinVar RCV Id:
RCV002011664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073285.1:p.Val911Met
CA304878442
NM_001079817.3:c.2731G>A