ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573076496
Gene: COL18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
340258
ClinVar RCV Id:
RCV000375403
RCV001861181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366429.1:p.Gly939Ser
CA10067482
NM_001379500.1:c.2815G>A