ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829417379
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000189551
RCV000464908
RCV001808528
RCV002345681
ClinVar Variation:
207376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003118.2:p.Arg1844Trp
CA318780
NM_003127.4:c.5530C>T