ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573075843
Gene: TBCEL-TECTA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000007436
RCV000595062
RCV004017230
ClinVar Variation:
7021
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365690.1:p.Arg2335His
CA254070
NM_001378761.1:c.7004G>A