ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3070948381
Gene: GHR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000154.1:p.Val173Glu
CA118048244
NM_000163.5:c.518T>A