ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139687629
Gene: SLC12A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
971851
ClinVar RCV Id:
RCV001247731
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128243.1:p.Pro129Leu
CA409187551
NM_001134771.2:c.386C>T