ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830441247
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006014
RCV000415256
RCV000523541
RCV001847585
ClinVar Variation:
5660
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955468.1:p.Arg467Cys
CA253551
NM_199436.2:c.1399C>T