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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:
PA2827894792
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
433864
ClinVar RCV Id:
RCV000500323
RCV003584636
RCV003766812
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341549.1:p.Pro301Leu
CA352052560
NM_001354620.2:c.902C>T