ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830035955
Gene: COL18A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002633638
ClinVar Variation:
2196395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_085059.2:p.Gly1099Ala
CA410499147
NM_030582.4:c.3296G>C