ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580117117
Gene: TWIST1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000465.1:p.Ala127Lys
CA2580076908
NM_000474.4:c.379_380delinsAA