ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375063
Gene: SLC4A11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001376
ClinVar Variation:
1313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114423.1:p.Tyr460_Ala461delinsThr
CA354211
NM_032034.4:c.1378_1381delinsA