ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825888608
Gene: PLIN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000117994
RCV001723681
RCV001789172
ClinVar Variation:
129973
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138783.1:p.Pro194Ala
CA154702
NM_001145311.2:c.580C>G