ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA123874
Gene: MC1R
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002377.4:p.Thr157Ile
CA123873
NM_002386.4:c.470C>T