ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825113625
Gene: PLOD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1205941
ClinVar RCV Id:
RCV001572877
RCV001866042
RCV003161119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000293.2:p.Leu506Phe
CA338444700
NM_000302.4:c.1516C>T