Allele Registry

Canonical Allele Identifier: PA2828113145

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000713515

RCV001086665

RCV001808453

RCV002314636

RCV004552999

ClinVar Variation:

196941

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Asn1507Ser	CA244765 NM_001363765.2:c.4520A>G