ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828125112
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006022
ClinVar Variation:
5668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350804.1:p.Ile311Lys
CA253560
NM_001363875.2:c.932T>A