ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3087702268
Gene: GDF5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000548.2:p.Leu373Pro
CA408739872
NM_000557.5:c.1118T>C