ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915988740
Gene: COL5A3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056534.2:p.Val1195Ala
CA9182236
NM_015719.4:c.3584T>C