ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828125332
Gene: SPAST
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
511420
ClinVar RCV:
RCV000624733
RCV003523004
ClinVar Variation:
521854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350804.1:p.Asn454Asp
CA346502475
NM_001363875.2:c.1360A>G