ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830441448
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000493133
RCV002289681
ClinVar Variation:
430449
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955468.1:p.Ser556Pro
CA346505587
NM_199436.2:c.1666T>C