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: PA2827713330

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 954786

ClinVar RCV Id: RCV001227308 RCV003482348

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340122.2:p.Tyr706His	CA200798287 NM_001353193.2:c.2116T>C