ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830441058
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448444
ClinVar RCV Id:
RCV000626922
RCV000644897
RCV003482273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955468.1:p.Leu394Phe
CA346502047
NM_199436.2:c.1180C>T