ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828118734
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2497977
ClinVar RCV Id:
RCV003219043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350752.1:p.Arg65His
CA346601642
NM_001363823.2:c.194G>A