ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828575281
Gene: SPTAN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362241.2:p.Arg2320_Met2321dup
CA318769
NM_001375312.2:c.6959_6964dup