ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3081909044
Gene: PLIN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002657.3:p.Pro194Thr
CA7729018
NM_002666.5:c.580C>A