ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827034466
Gene: POMC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3043975
ClinVar RCV Id:
RCV004532215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306133.1:p.Glu175Gln
CA1555283
NM_001319204.2:c.523G>C