ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830163293
Gene: COL13A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542995.3:p.Val474Met
CA5534844
NM_080805.4:c.1420G>A