ClinGen Allele Registry
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Canonical Allele Identifier:
PA916021702
Gene: PLOD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
255801
ClinVar RCV Id:
RCV000246712
RCV000288518
RCV000415917
RCV002277608
RCV002310826
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303249.1:p.Arg559Cys
CA598432
NM_001316320.2:c.1675C>T