Allele Registry

Canonical Allele Identifier: PA114921

Gene: SLC4A11 HGNC NCBI

ClinVar RCV:

RCV000001379

RCV000595591

RCV002490290

ClinVar Variation:

1316

HGVS (amino-acid)	Matching Registered Transcripts
NP_001167560.1:p.Leu827Pro	CA114920 NM_001174089.2:c.2480T>C