ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828295543
Gene: COL13A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355825.1:p.Arg523His
CA5534953
NM_001368896.1:c.1568G>A