ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828292209
Gene: COL13A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355814.1:p.Arg558His
CA5534953
NM_001368885.1:c.1673G>A