ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828119193
Gene: SPAST
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
221179
ClinVar RCV:
RCV000204046
RCV000585136
RCV001847923
ClinVar Variation:
219575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350752.1:p.Arg502Trp
CA348315
NM_001363823.2:c.1504C>T