ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645478455
Gene: SLC4A4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349541
ClinVar RCV Id:
RCV000326814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128214.1:p.Ile378Leu
CA10621647
NM_001134742.2:c.1132A>C