ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828573945
Gene: SPTAN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362240.1:p.Glu2207del
CA173593
NM_001375311.2:c.6619_6621del