ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139749241
Gene: COL18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
283501
ClinVar RCV Id:
RCV000384279
RCV004547681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_569711.2:p.Arg1362His
CA10067509
NM_130444.2:c.4085G>A