Allele Registry

Canonical Allele Identifier: PA173569

Gene: SPTAN1 HGNC NCBI

ClinVar RCV:

RCV000147630

RCV000713513

RCV001085811

RCV002316952

RCV004551283

ClinVar Variation:

160012

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123910.1:p.Gln1400Leu	CA173568 NM_001130438.3:c.4199A>T