ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139723967
Gene: SPAST
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001268059
ClinVar Variation:
986901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055761.2:p.Leu371Val
CA346501218
NM_014946.4:c.1111C>G