ClinGen Allele Registry
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Canonical Allele Identifier:
PA250434
Gene: SLC4A11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001367
RCV001851537
ClinVar Variation:
1304
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167560.1:p.Arg739Gln
CA250433
NM_001174089.2:c.2216G>A