ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3074700280
Gene: LPL
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000228.1:p.Ser199Phe
CA4655478
NM_000237.3:c.596C>T