ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829948490
Gene: SLC12A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
852888
ClinVar RCV Id:
RCV001057598
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065759.1:p.Pro1021Leu
CA409208064
NM_020708.5:c.3062C>T