ClinGen Allele Registry
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Canonical Allele Identifier:
PA281012
Gene: PLOD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
29406
ClinVar RCV:
RCV000015443
RCV002259305
ClinVar Variation:
14367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000293.2:p.Glu532del
CA281011
NM_000302.4:c.1594_1596del