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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:
PA299443
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182627
ClinVar RCV Id:
RCV000160672
RCV000228068
RCV000568274
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000170.1:p.Lys610Asn
CA009284
NM_000179.3:c.1830G>C
CA009292
NM_000179.3:c.1830G>T