ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830441346
Gene: SPAST
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
185968
ClinVar RCV:
RCV000167918
ClinVar Variation:
188083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955468.1:p.Gly514Glu
CA333996
NM_199436.2:c.1541G>A