ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826204688
Gene: SPTAN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182461.1:p.Gln2279_Gly2281del
CA913184752
NM_001195532.2:c.6835_6843del