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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:
PA1139742897
Gene: SCN9A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
892645
ClinVar RCV Id:
RCV001128933
RCV001128934
RCV001128935
RCV001856680
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352465.1:p.Arg1367Cys
CA59810279
NM_001365536.1:c.4099C>T