ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573214718
Gene: COL18A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366429.1:p.Arg14Cys
CA410620313
NM_001379500.1:c.40C>T