ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826301347
Gene: GHR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229389.1:p.Ile250Val
CA3254508
NM_001242460.1:c.748A>G