ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828291925
Gene: COL13A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001355813.1:p.Val515Met
CA5534844
NM_001368884.1:c.1543G>A