ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830441391
Gene: SPAST
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
20712
ClinVar RCV:
RCV000006027
ClinVar Variation:
5673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955468.1:p.Arg530Gly
CA253566
NM_199436.2:c.1588C>G