ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916021703
Gene: PLOD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
459810
ClinVar RCV Id:
RCV000541188
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303249.1:p.His562Tyr
CA598434
NM_001316320.2:c.1684C>T