ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580124930
Gene: GH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000506.2:p.Ser158Ile
CA400611175
NM_000515.5:c.473G>T