ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA212827
Gene: TBCE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5290
ClinVar RCV Id:
RCV000005608
RCV000191990
RCV000224858
RCV003989279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003184.1:p.Ser52_Gly55del
CA212825
NM_003193.5:c.155_166del