Allele Registry

Canonical Allele Identifier: PA2829417475

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000189470

RCV001321393

RCV001808496

ClinVar Variation:

207297

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Lys1969Asn	CA318629 NM_003127.4:c.5907G>C CA375082509 NM_003127.4:c.5907G>T