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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:
PA2828080017
Gene: MCCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1922
ClinVar RCV Id:
RCV000001999
RCV003313912
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350076.1:p.Pro272Arg
CA251968
NM_001363147.1:c.815C>G