ClinGen Allele Registry
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Canonical Allele Identifier:
PA916044184
Gene: SPTAN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350688.1:p.Arg2160Cys
CA5265709
NM_001363759.2:c.6478C>T