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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:
PA2827911491
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
90339
ClinVar RCV Id:
RCV000075830
RCV000573119
RCV001210008
RCV001354491
RCV001804824
RCV003466961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341559.1:p.Gly244Asp
CA011836
NM_001354630.2:c.731G>A