ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826299425
Gene: GHR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000009190
RCV000173652
RCV000392579
RCV001701562
RCV001719693
ClinVar Variation:
8658
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229330.1:p.Ile544Leu
CA200655
NM_001242401.4:c.1630A>C