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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:
PA2826635605
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479877
ClinVar RCV Id:
RCV000572638
RCV000798635
RCV002266987
RCV004000869
RCV003470825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268423.1:p.Thr370Ile
CA346750694
NM_001281494.2:c.1109C>T