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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:
PA2826831515
Gene: MCCC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1931
ClinVar RCV Id:
RCV000002008
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001280202.1:p.Asp415His
CA251976
NM_001293273.2:c.1243G>C