ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828112339
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001034135
RCV001718900
RCV001809697
RCV004024937
ClinVar Variation:
510502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350694.1:p.Asn358Ser
CA5264294
NM_001363765.2:c.1073A>G