ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101432
Gene: MC2R
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000520.1:p.Ser74Ile
NM_000529.2:c.221G>T