ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828125209
Gene: SPAST
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350804.1:p.Ser374Asn
CA346501463
NM_001363875.2:c.1121G>A