ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825691452
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1325794
ClinVar RCV Id:
RCV001785331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123910.1:p.Asp2284del
CA913184751
NM_001130438.3:c.6850_6852del