ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828125157
Gene: SPAST
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
384433
ClinVar RCV:
RCV000449607
RCV001848797
ClinVar Variation:
397539
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350804.1:p.Leu338Phe
CA16609412
NM_001363875.2:c.1012C>T