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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:
PA2827912610
Gene: MLH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
90090
ClinVar RCV Id:
RCV000115474
RCV000563079
RCV000791373
RCV003894921
RCV003997127
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341559.1:p.Asp682Val
CA009102
NM_001354630.2:c.2045A>T