Canonical Allele Identifier: PA2827034481
Gene: POMC HGNC NCBI

Linked Data

ClinVar Variation Id: 3029669
ClinVar RCV Id: RCV004531786
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001306133.1:p.Lys216del
CA346066362
NM_001319204.2:c.646A>T
CA346066367
NM_001319204.2:c.643A>T
CA425353361
NM_001319204.2:c.646_648del