Allele Registry

Canonical Allele Identifier: PA2828113432

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189470

RCV001321393

RCV001808496

ClinVar Variation:

207297

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350694.1:p.Lys1954Asn	CA318629 NM_001363765.2:c.5862G>C CA375082509 NM_001363765.2:c.5862G>T