Allele Registry

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.

Canonical Allele Identifier: PA160480

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 41639

ClinVar RCV Id: RCV000034545 RCV000075554 RCV000115472 RCV000121366 RCV000600229 RCV001082159 RCV001269371 RCV001798063

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000240.1:p.Val716Met	CA008859 NM_000249.4:c.2146G>A