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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:
PA2826635357
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224580
ClinVar RCV Id:
RCV000210205
RCV000410099
RCV000524121
RCV000575424
RCV001284178
RCV003479062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001268423.1:p.Ser314Cys
CA068191
NM_001281494.2:c.941C>G