ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828112185
Gene: SPTAN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350694.1:p.Arg123His
CA318654
NM_001363765.2:c.368G>A