ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3085521759
Gene: MC2R
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000520.1:p.Pro249Ser
CA401994115
NM_000529.2:c.745C>T