ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825197165
Gene: GDF5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2211719
ClinVar RCV Id:
RCV002677228
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000548.2:p.Ser460Phe
CA314131439
NM_000557.5:c.1379C>T