ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828118771
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3168170
ClinVar RCV Id:
RCV004460084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350752.1:p.Ala104Thr
CA346602231
NM_001363823.2:c.310G>A