ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139677134
Gene: SLC12A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119580.2:p.Val677Met
CA8069689
NM_001126108.2:c.2029G>A