ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499254314
Gene: COL13A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355811.1:p.Val536Met
CA5534844
NM_001368882.1:c.1606G>A