ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573172723
Gene: SI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1461953
ClinVar RCV Id:
RCV001985575
RCV002492146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032.2:p.Ile124Thr
CA86497779
NM_001041.4:c.371T>C