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: PA2827716703

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 130011

ClinVar RCV Id: RCV000118035 RCV000331368 RCV000712821 RCV001085455

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340128.2:p.Ala524Val	CA154753 NM_001353199.2:c.1571C>T