ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828577684
Gene: SPTAN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362243.1:p.Gln2015Lys
CA375086007
NM_001375314.2:c.6043C>A