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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:
PA2828902918
Gene: STIM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41464
ClinVar RCV Id:
RCV000034350
RCV001061682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369498.1:p.Arg384Cys
CA130849
NM_001382569.1:c.1150C>T