ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828903462
Gene: STIM1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000224722
RCV001079733
RCV001281026
RCV003891799
ClinVar Variation:
235347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369499.1:p.Ser448Phe
CA5830586
NM_001382570.1:c.1343C>T