Allele Registry

Canonical Allele Identifier: PA915981221

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000724442

RCV000805848

RCV001729428

ClinVar Variation:

195127

HGVS (amino-acid)	Matching Registered Transcripts
NP_003118.2:p.Tyr44Cys	CA241408 NM_003127.4:c.131A>G