ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828572475
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
861437
ClinVar RCV Id:
RCV001067960
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362239.1:p.Arg1849Gln
CA5265497
NM_001375310.1:c.5546G>A