ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830162509
Gene: COL13A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542990.3:p.Val506Met
CA5534844
NM_080800.4:c.1516G>A