ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829948497
Gene: SLC12A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1052598
ClinVar RCV Id:
RCV001360816
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065759.1:p.Asp1031His
CA409208220
NM_020708.5:c.3091G>C