ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139749160
Gene: COL18A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000171509
ClinVar Variation:
191317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_569711.2:p.Arg1330Ter