ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA236431
Gene: COL18A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_569712.2:p.Arg915Ter
NM_130445.4:c.2743C>T