ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826840108
Gene: COL8A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001281276.1:p.Gln390Lys
CA127106
NM_001294347.2:c.1168C>A