ClinGen Allele Registry
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Canonical Allele Identifier:
PA318789
Gene: SPTAN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123910.1:p.Asp2303_Leu2305del
CA318788
NM_001130438.3:c.6908_6916del