Allele Registry

Canonical Allele Identifier: PA127378

Gene: SLC4A1 HGNC NCBI

ClinVar RCV:

RCV000019334

ClinVar Variation:

17757

HGVS (amino-acid)	Matching Registered Transcripts
NP_000333.1:p.Val557Met	CA127377 NM_000342.4:c.1669G>A