Allele Registry

Canonical Allele Identifier: PA114931

Gene: SLC4A11 HGNC NCBI

ClinVar RCV:

RCV000001386

RCV003230339

RCV003555885

ClinVar Variation:

1323

HGVS (amino-acid)	Matching Registered Transcripts
NP_001167560.1:p.Glu383Lys	CA114930 NM_001174089.2:c.1147G>A