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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:
PA2826625833
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
801217
ClinVar RCV Id:
RCV000985823
RCV001180968
RCV001224992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268421.1:p.Ile334Thr
CA346745110
NM_001281492.2:c.1001T>C