ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915981500
Gene: SPTAN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003118.2:p.Arg652His
CA5264542
NM_003127.4:c.1955G>A