ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580265968
Gene: MC1R
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2283214
ClinVar RCV Id:
RCV004138289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002377.4:p.Tyr183Cys
CA8255655
NM_002386.4:c.548A>G