ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580280834
Gene: PLIN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002657.3:p.Ala47Ser
CA393797408
NM_002666.5:c.139G>T