ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828119016
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208644
ClinVar RCV Id:
RCV000190649
RCV000206286
RCV000478313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350752.1:p.Met389Val
CA204591
NM_001363823.2:c.1165A>G