ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826204302
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1806674
ClinVar RCV Id:
RCV002474103
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182461.1:p.Arg1774Gln
CA375075956
NM_001195532.2:c.5321G>A