ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828798121
Gene: TBCEL-TECTA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288521
ClinVar RCV Id:
RCV000662344
RCV001336814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365690.1:p.Thr1134Met
CA6326995
NM_001378761.1:c.3401C>T