ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828125249
Gene: SPAST
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000459046
RCV000482415
ClinVar Variation:
409031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350804.1:p.Leu393Val
CA16610830
NM_001363875.2:c.1177C>G