ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472388
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
417628
ClinVar RCV Id:
RCV000476656
RCV001848846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055761.2:p.Asp493His
CA16616713
NM_014946.4:c.1477G>C