ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573075686
Gene: TBCEL-TECTA
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000038479
RCV000280252
RCV000351631
RCV000710327
RCV002054700
ClinVar Variation:
45314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365690.1:p.Arg690Gly
CA136018
NM_001378761.1:c.2068A>G