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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:
PA253900
Gene: COCH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6616
ClinVar RCV Id:
RCV000006995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004077.1:p.Met512Thr
CA253899
NM_004086.3:c.1535T>C