ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828113623
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35483
ClinVar RCV Id:
RCV000029155
RCV000657889
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350694.1:p.Gln2182del
CA129923
NM_001363765.2:c.6545_6547del