ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3085839791
Gene: MC2R
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000520.1:p.Ala252Val
CA401994074
NM_000529.2:c.755C>T