ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828119229
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217003
ClinVar RCV Id:
RCV000199081
RCV000486146
RCV001193265
RCV001795327
RCV004020479
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350752.1:p.Asp541Gly
CA277520
NM_001363823.2:c.1622A>G