ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828113453
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189520
RCV001323491
RCV001808518
ClinVar Variation:
207346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350694.1:p.Lys1985Arg
CA318722
NM_001363765.2:c.5954A>G