ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096188
Gene: SPAST
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000195806
RCV001091364
RCV001847904
RCV003401083
ClinVar Variation:
217004
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055761.2:p.Arg562Gln
CA278930
NM_014946.4:c.1685G>A