ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828733400
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409031
ClinVar RCV Id:
RCV000459046
RCV000482415
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364888.1:p.Leu394Val
CA16610830
NM_001377959.1:c.1180C>G