ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094390
Gene: SLC4A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000202408
ClinVar Variation:
218184
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000333.1:p.Leu687Pro
CA215057
NM_000342.4:c.2060T>C