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: PA2826041414

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36547

ClinVar RCV Id: RCV000034546 RCV000030220 RCV000035352 RCV000144604 RCV000157759 RCV000625495 RCV001081091 RCV001353518 RCV003149581

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001161090.1:p.His477Tyr	CA008892 NM_001167618.3:c.1429C>T