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: PA2827712981

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283451

ClinVar RCV Id: RCV000332052 RCV000648159 RCV000725271 RCV004021137

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340122.2:p.Arg312Trp	CA10604495 NM_001353193.2:c.934C>T