ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828125064
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000518464
RCV000764403
RCV001848906
RCV002525084
ClinVar Variation:
448455
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350804.1:p.Val245Met
CA1600714
NM_001363875.2:c.733G>A