ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645508044
Gene: SLC12A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000329.2:p.Val958Ala
CA7547535
NM_000338.3:c.2873T>C