ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499247808
Gene: PLOD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1285073
ClinVar RCV Id:
RCV001702293
RCV001732231
RCV003968491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001303249.1:p.Ser58Phe
CA597746
NM_001316320.2:c.173C>T