ClinGen Allele Registry
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Canonical Allele Identifier:
PA250438
Gene: SLC4A11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001369
ClinVar Variation:
1306
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167560.1:p.Gly448Asp
CA250437
NM_001174089.2:c.1343G>A