ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA085484
Gene: PLOD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001555764
RCV001854839
RCV002379035
ClinVar Variation:
242450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000293.2:p.Arg46Cys
CA085481
NM_000302.4:c.136C>T