ClinGen Allele Registry
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Canonical Allele Identifier:
PA658806338
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001346568
RCV001697975
RCV001809699
RCV004024947
ClinVar Variation:
511730
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123910.1:p.Lys1664Arg
CA5265353
NM_001130438.3:c.4991A>G