ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139744025
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
834937
ClinVar RCV Id:
RCV001035725
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362247.1:p.Gly1810Ser
CA5265450
NM_001375318.1:c.5428G>A