Allele Registry

Canonical Allele Identifier: PA119570

Gene: GDF5 HGNC NCBI

ClinVar RCV:

RCV000008893

RCV000008894

RCV001992913

ClinVar Variation:

8386

1450722

HGVS (amino-acid)	Matching Registered Transcripts
NP_000548.2:p.Arg438Leu	CA119569 NM_000557.5:c.1313G>T CA2573157055 NM_000557.5:c.1313_1314delinsTT