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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826299867
Gene: GHR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225374
ClinVar RCV Id:
RCV000490420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229332.1:p.Gly166Glu
CA3254420
NM_001242403.3:c.497G>A