ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828111636
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
953458
ClinVar RCV Id:
RCV001225755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350688.1:p.Ala2297Ser
CA5265920
NM_001363759.2:c.6889G>T