ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830441101
Gene: SPAST
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
20697
ClinVar RCV:
RCV000006012
ClinVar Variation:
5658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955468.1:p.Cys416Tyr
CA253548
NM_199436.2:c.1247G>A