ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA119580
Gene: GDF5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008901
ClinVar Variation:
8393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000548.2:p.Arg378Gln
CA119579
NM_000557.5:c.1133G>A