ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741948913
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3027294
ClinVar RCV Id:
RCV003887687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055761.2:p.Val395dup
CA2740092811
NM_014946.4:c.1184_1186dup