Allele Registry

Canonical Allele Identifier: PA127393

Gene: SLC4A1 HGNC NCBI

ClinVar RCV:

RCV000019345

RCV000248753

RCV000388319

RCV000974422

RCV000989924

RCV001127356

ClinVar Variation:

17768

HGVS (amino-acid)	Matching Registered Transcripts
NP_000333.1:p.Pro854Leu	CA127392 NM_000342.4:c.2561C>T