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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:
PA2827895431
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
89884
ClinVar RCV Id:
RCV000075360
RCV003451065
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341549.1:p.Ala491Asp
CA006836
NM_001354620.2:c.1472C>A