ClinGen Allele Registry
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Canonical Allele Identifier:
PA3081961587
Gene: SLC12A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000329.2:p.Ser249Tyr
CA392306809
NM_000338.3:c.746C>A