ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA319030
Gene: TBC1D24
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207501
ClinVar RCV Id:
RCV000189688
RCV001003986
RCV001303714
RCV002478664
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186036.1:p.Ser202Leu
CA319029
NM_001199107.2:c.605C>T