ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993716
Gene: SLC4A11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001382
ClinVar Variation:
1319
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001167561.1:p.Ser240Pro
CA114922
NM_001174090.2:c.718T>C