ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826472360
Gene: SLC4A8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245331.1:p.Arg450Trp
CA6570484
NM_001258402.2:c.1348C>T