ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645406922
Gene: PLOD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000293.2:p.Arg512Cys
CA598432
NM_000302.4:c.1534C>T