ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139724332
Gene: SPAST
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055761.2:p.Arg499Ser
CA346502822
NM_014946.4:c.1495C>A