ClinGen Allele Registry
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Canonical Allele Identifier:
PA658806438
Gene: SPTAN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000636363
ClinVar Variation:
530483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123910.1:p.Lys2338Glu
CA375099898
NM_001130438.3:c.7012A>G