ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825389281
Gene: SLC4A8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035049.1:p.Ala503Val
CA384872512
NM_001039960.3:c.1508C>T