ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA130350
Gene: GDF5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000032711
ClinVar Variation:
39515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000548.2:p.Arg399Cys
CA130349
NM_000557.5:c.1195C>T