ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825076432
Gene: TBX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1736276
ClinVar RCV Id:
RCV002373228
RCV003094446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000183.2:p.Pro39Ser
CA6809716
NM_000192.3:c.115C>T