ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830441202
Gene: SPAST
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000517007
RCV001216975
RCV002281101
ClinVar Variation:
448447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955468.1:p.Gly452Arg
CA346502457
NM_199436.2:c.1354G>C