ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA124317
Gene: IGF1R
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000866.1:p.Arg511Gln
CA124316
NM_000875.5:c.1532G>A