ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828125442
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_001350804.1:p.Asn546His
CA207191
NM_001363875.2:c.1636A>C