ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100248
Gene: TBX19
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000005774
ClinVar Variation:
5441
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005140.1:p.Ser128Phe
CA250030
NM_005149.2:c.383C>T