ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916058611
Gene: COL18A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_569711.2:p.Val646Met
CA10065850
NM_130444.2:c.1936G>A