ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828125149
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536436
ClinVar RCV Id:
RCV000644886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350804.1:p.Phe335Ser
CA346501201
NM_001363875.2:c.1004T>C