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: PA344656

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42192

ClinVar RCV Id: RCV000035016 RCV000213759 RCV003153327 RCV003335062 RCV003137557

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000240.1:p.Leu73Arg	CA009060 NM_000249.4:c.218T>G