ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828733493
Gene: SPAST
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
404606
ClinVar RCV:
RCV000476656
RCV001848846
ClinVar Variation:
417628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364888.1:p.Asp461His
CA16616713
NM_001377959.1:c.1381G>C