ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830441141
Gene: SPAST
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000234461
RCV000713464
RCV001847989
ClinVar Variation:
240948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955468.1:p.Arg428Cys
CA10581968
NM_199436.2:c.1282C>T