ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580235652
Gene: COL18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1925078
ClinVar RCV Id:
RCV002617975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366429.1:p.Arg950Cys
CA10067508
NM_001379500.1:c.2848C>T