ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198675
Gene: TBX6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000167866
RCV000855736
RCV001316105
ClinVar Variation:
188056
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004599.2:p.Pro145Leu
CA198674
NM_004608.4:c.434C>T