ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828113128
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000540596
RCV001809478
RCV002316531
ClinVar Variation:
461226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350694.1:p.Gly1495Cys
CA5265211
NM_001363765.2:c.4483G>T