ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828118941
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5668
ClinVar RCV Id:
RCV000006022
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350752.1:p.Ile343Lys
CA253560
NM_001363823.2:c.1028T>A