ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916068049
Gene: GH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_072054.1:p.Ala39Val
CA8708356
NM_022560.4:c.116C>T