ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573246954
Gene: COL8A2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005193.1:p.Ala443Val
CA764962
NM_005202.4:c.1328C>T