ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580205464
Gene: POMC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2079912
ClinVar RCV Id:
RCV002998884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306134.1:p.Gly239Asp
CA346066203
NM_001319205.2:c.716G>A