Allele Registry

Canonical Allele Identifier: PA915993749

Gene: SLC4A11 HGNC NCBI

ClinVar RCV:

RCV000001368

RCV001851538

ClinVar Variation:

1305

HGVS (amino-acid)	Matching Registered Transcripts
NP_001167561.1:p.Ser516Leu	CA250435 NM_001174090.2:c.1547C>T