ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828733301
Gene: SPAST
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
518192
ClinVar RCV:
RCV000644886
ClinVar Variation:
536436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364888.1:p.Phe336Ser
CA346501201
NM_001377959.1:c.1007T>C