ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573211333
Gene: SPTAN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362247.1:p.Gln2047Lys
CA375086007
NM_001375318.1:c.6139C>A