ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3081920239
Gene: SLC12A6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035961.1:p.Arg1002Gly
CA391617881
NM_001042496.2:c.3004C>G