ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915981240
Gene: SPTAN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003118.2:p.Arg139Gln
CA318555
NM_003127.4:c.416G>A