ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645420664
Gene: COL18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
340200
ClinVar RCV Id:
RCV000309460
RCV001398377
RCV004549780
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_085059.2:p.Val411Met
CA10065850
NM_030582.4:c.1231G>A