ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830034508
Gene: COL18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1483617
ClinVar RCV Id:
RCV002025478
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_085059.2:p.Cys17del
CA10065371
NM_030582.4:c.49_51del