ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499237359
Gene: INTS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073922.2:p.Arg1096Cys
CA4119374
NM_001080453.3:c.3286C>T