ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139749160
Gene: COL18A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_569711.2:p.Arg1330Ter
NM_130444.2:c.3988C>T