ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580473945
Gene: TMX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_110382.3:p.Pro144Ala
CA389756796
NM_030755.5:c.430C>G