ClinGen Allele Registry
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Canonical Allele Identifier:
PA094073
Gene: SLC4A11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114423.1:p.Gly394Arg
CA9741985
NM_032034.4:c.1180G>A
CA9741986
NM_032034.4:c.1180G>C