ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826107520
Gene: SLC4A11
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167560.1:p.Ser473Trp
CA408088510
NM_001174089.2:c.1418C>G