ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093436
Gene: SI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1416
ClinVar RCV Id:
RCV000001481
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032.2:p.Cys1229Tyr
CA115003
NM_001041.4:c.3686G>A