ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573075817
Gene: TBCEL-TECTA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7022
ClinVar RCV Id:
RCV000007437
RCV000756762
RCV001544521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365690.1:p.Arg2204Cys
CA254071
NM_001378761.1:c.6610C>T