ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828112742
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
745446
ClinVar RCV Id:
RCV000921987
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350694.1:p.Tyr918Asn
CA375058545
NM_001363765.2:c.2752T>A