ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827061292
Gene: COL13A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307880.1:p.Arg247Gln
CA5534419
NM_001320951.2:c.740G>A