ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA202716
Gene: GH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000506.2:p.Val136Ile
NM_000515.5:c.406G>A