ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645436432
Gene: GH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284727
ClinVar RCV Id:
RCV000300522
RCV000363532
RCV000870866
RCV002502119
RCV003977771
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000506.2:p.Ala39Val
CA8708356
NM_000515.5:c.116C>T