ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828125343
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000476656
RCV001848846
ClinVar Variation:
417628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350804.1:p.Asp460His
CA16616713
NM_001363875.2:c.1378G>C