ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830441427
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
212290
ClinVar RCV Id:
RCV000193599
RCV000509114
RCV000658865
RCV001640291
RCV001391562
RCV001847874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955468.1:p.Asn547His
CA207191
NM_199436.2:c.1639A>C