ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580205265
Gene: GDF5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1961221
ClinVar RCV Id:
RCV002720582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306067.1:p.Ser455Phe
CA408738219
NM_001319138.2:c.1364C>T