ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828573585
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2768910
ClinVar RCV Id:
RCV003590993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362240.1:p.Lys1519Arg
CA375068398
NM_001375311.2:c.4556A>G