ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA250445
Gene: SLC4A11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001374
RCV001389004
ClinVar Variation:
1311
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167560.1:p.Arg853His
CA250444
NM_001174089.2:c.2558G>A