ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830390528
Gene: TBX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
139662
ClinVar RCV Id:
RCV000128626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_852259.1:p.Ile101Phe
CA163401
NM_181486.4:c.301A>T