ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825468064
Gene: INTS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073922.2:p.Arg1950Cys
CA4118233
NM_001080453.3:c.5848C>T