ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658806435
Gene: SPTAN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
433115
ClinVar RCV Id:
RCV000656027
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123910.1:p.Asn2285Ser
CA375098046
NM_001130438.3:c.6854A>G