ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828833510
Gene: COL18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
340227
ClinVar RCV Id:
RCV000340898
RCV004549789
RCV001349865
RCV002523183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366429.1:p.Ala563Thr
CA10066510
NM_001379500.1:c.1687G>A