ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825690851
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2119138
ClinVar RCV Id:
RCV003054513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123910.1:p.His1811Tyr
CA375076256
NM_001130438.3:c.5431C>T