ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741914664
Gene: TBX19
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2547784
ClinVar RCV Id:
RCV003257870
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005140.1:p.Val194Met
CA1230529
NM_005149.2:c.580G>A