ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826246379
Gene: SLC4A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
64510
ClinVar RCV Id:
RCV000054697
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186621.1:p.Ala1047Val
CA216309
NM_001199692.3:c.3140C>T