Canonical Allele Identifier: PA244766
Gene: SPTAN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196941
ClinVar RCV Id: RCV000713515 RCV001086665 RCV001808453 RCV002314636 RCV004552999
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001123910.1:p.Asn1527Ser
CA244765
NM_001130438.3:c.4580A>G