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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741926003
Gene: MC4R
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3043441
ClinVar RCV Id:
RCV003934219
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005903.2:p.Leu304Phe
CA8980812
NM_005912.3:c.910C>T