ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828119076
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000459046
RCV000482415
ClinVar Variation:
409031
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350752.1:p.Leu425Val
CA16610830
NM_001363823.2:c.1273C>G