ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580175215
Gene: GHR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229328.1:p.Val253Met
CA359696036
NM_001242399.2:c.757G>A