ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658661592
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_000293.2:p.His515Tyr
CA598434
NM_000302.4:c.1543C>T