ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139672042
Gene: LEP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000221.1:p.Tyr18Cys
CA4469626
NM_000230.3:c.53A>G