ClinGen Allele Registry
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Canonical Allele Identifier:
PA645404409
Gene: TBXAS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001159725.1:p.Asp345_Ile346del
NM_001166253.1:c.1034_1039del
NM_001166253.1:c.[1034_1039del;1041C>A]
NM_001166253.1:c.[1034_1039del;1041C=]
NM_001166253.1:c.[1034_1039del;1041C>G]
NM_001166253.1:c.[1034_1039del;1041C>T]
NM_001166253.1:c.[1034_1039del;1041_1043d...