ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830441168
Gene: SPAST
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001288790
ClinVar Variation:
994980
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955468.1:p.Asp438Ala
CA346502358
NM_199436.2:c.1313A>C