ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828125441
Gene: SPAST
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000517986
RCV000700492
ClinVar Variation:
448450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350804.1:p.Met544Arg
CA346505502
NM_001363875.2:c.1631T>G