ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828125131
Gene: SPAST
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374641
ClinVar RCV Id:
RCV000416011
RCV001391499
RCV004022186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350804.1:p.Glu323Lys
CA16043827
NM_001363875.2:c.967G>A