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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:
PA2826299533
Gene: GHR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8632
ClinVar RCV Id:
RCV000009164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229331.1:p.Phe114Ser
CA119790
NM_001242402.2:c.341T>C