ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829417792
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1254403
ClinVar RCV Id:
RCV001665328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003118.2:p.Asn2280del
CA2579470529
NM_003127.4:c.6840_6842del