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: PA2827713051

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1034728

ClinVar RCV Id: RCV001337493 RCV002546818 RCV003132427

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340122.2:p.His397Gln	CA5293543 NM_001353193.2:c.1191C>G CA200787305 NM_001353193.2:c.1191C>A