Allele Registry

Canonical Allele Identifier: PA2829417684

Gene: SPTAN1 HGNC NCBI

ClinVar Allele:

202433

ClinVar RCV:

RCV000189528

RCV000549789

RCV001262535

RCV002317651

RCV003221842

ClinVar Variation:

207354

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Lys2158Arg	CA318738 NM_003127.4:c.6473A>G