ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830167847
Gene: COL18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2073651
ClinVar RCV Id:
RCV002972046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_569711.2:p.Gly1346Ser
CA10067472
NM_130444.2:c.4036G>A