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: PA095819

Gene: MTR HGNC NCBI

Linked Data

ClinVar Variation Id: 14278

ClinVar RCV Id: RCV000015348 RCV000162189 RCV000210576 RCV000414734 RCV001003947 RCV000778974

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000245.2:p.Pro1173Leu	CA249972 NM_000254.3:c.3518C>T