ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828125312
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006024
ClinVar Variation:
5670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350804.1:p.Asp437Val
CA253564
NM_001363875.2:c.1310A>T