Canonical Allele Identifier: PA658805450
Gene: COL18A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_569712.2:p.Pro944_Pro946del
CA10067477
NM_130445.4:c.2823_2831del
CA2987778627
NM_130445.4:c.2823_2832delinsT