Canonical Allele Identifier: PA216083
Gene: SLC12A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 64410
ClinVar RCV Id: RCV000054597
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000329.2:p.Pro129Leu
CA216082
NM_000338.3:c.386C>T