ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580381075
Gene: COL5A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056534.2:p.Thr1684Lys
CA9181610
NM_015719.4:c.5051C>A