ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830440822
Gene: SPAST
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000416011
RCV001391499
RCV004022186
ClinVar Variation:
374641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_955468.1:p.Glu324Lys
CA16043827
NM_199436.2:c.970G>A