ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830441250
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240950
ClinVar RCV Id:
RCV000230990
RCV000713467
RCV000623007
RCV001814125
RCV003422150
RCV001847990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955468.1:p.Arg467His
CA10581969
NM_199436.2:c.1400G>A