ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828577596
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2502048
ClinVar RCV Id:
RCV003228467
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362243.1:p.Lys1838Glu
CA375077315
NM_001375314.2:c.5512A>G