ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828798148
Gene: TBCEL-TECTA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229295
ClinVar RCV Id:
RCV000216761
RCV001658020
RCV004020635
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365690.1:p.Thr1199Ala
CA6327032
NM_001378761.1:c.3595A>G