ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826204539
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189524
RCV001089073
RCV001808519
ClinVar Variation:
207350
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182461.1:p.Lys2078Arg
CA318730
NM_001195532.2:c.6233A>G