ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3070948375
Gene: GHR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000154.1:p.Ile171Asn
CA359695531
NM_000163.5:c.512T>A