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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:
PA2499288886
Gene: MCCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1210431
ClinVar RCV Id:
RCV001580734
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071415.1:p.Ala314Thr
CA359987618
NM_022132.5:c.940G>A