ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828575006
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1333719
ClinVar RCV Id:
RCV001808934
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362241.2:p.Gly1810Cys
CA375075946
NM_001375312.2:c.5428G>T