ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828833992
Gene: COL18A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366429.1:p.Pro1104Trp
CA2499225986
NM_001379500.1:c.3310_3311delinsTG