ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916076557
Gene: SLC12A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377102
ClinVar RCV Id:
RCV000444362
RCV001313521
RCV004022271
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065759.1:p.Pro95Leu
CA9887030
NM_020708.5:c.284C>T