ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645486282
Gene: COL18A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_569712.2:p.Pro983Ser
CA10653680
NM_130445.4:c.2947C>T