ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645420724
Gene: COL18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
340229
ClinVar RCV Id:
RCV000287059
RCV001351474
RCV002523184
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_085059.2:p.Ala767Val
CA10066533
NM_030582.4:c.2300C>T