ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828834167
Gene: COL18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
340270
ClinVar RCV Id:
RCV000260062
RCV001861184
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366429.1:p.Val1228Ile
CA10068005
NM_001379500.1:c.3682G>A