ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828733214
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000518464
RCV000764403
RCV001848906
RCV002525084
ClinVar Variation:
448455
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364888.1:p.Val246Met
CA1600714
NM_001377959.1:c.736G>A