ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916018324
Gene: MC2R
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001278840.1:p.Arg128Cys
NM_001291911.1:c.382C>T