ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139749168
Gene: COL18A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452120
ClinVar RCV Id:
RCV000520782
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_569711.2:p.Glu1341Lys
CA410499187
NM_130444.2:c.4021G>A