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: PA2828537468

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1476557

ClinVar RCV Id: RCV001998158

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361621.1:p.Ala378Glu	CA375312154 NM_001374692.1:c.1133C>A