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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:
PA109150
Gene: STIM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375470
ClinVar RCV Id:
RCV000416561
RCV003766175
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003147.2:p.Arg426Cys
CA16044283
NM_003156.4:c.1276C>T