ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139744048
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_001362247.1:p.Ala2309Ser
CA5265920
NM_001375318.1:c.6925G>T