ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA114917
Gene: SLC4A11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001167560.1:p.Arg472Lys
NM_001174089.2:c.1415G>A