ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240614
Gene: PLOD2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_891988.1:p.Tyr547His
CA240612
NM_182943.3:c.1639T>C