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: PA2827712835

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 471382

ClinVar RCV Id: RCV000527153

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340122.2:p.His130Pro	CA5293245 NM_001353193.2:c.389A>C