ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828125280
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536442
ClinVar RCV Id:
RCV000644893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350804.1:p.Arg417Gly
CA346502217
NM_001363875.2:c.1249A>G