ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829948499
Gene: SLC12A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2319018
ClinVar RCV Id:
RCV004166146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065759.1:p.Ser1034Ile
CA9887781
NM_020708.5:c.3101G>T