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: PA2825447109

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3242

ClinVar RCV Id: RCV002286388 RCV002512704

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070834.1:p.Trp506Cys	CA116106 NM_001077366.2:c.1518G>C CA375313220 NM_001077366.2:c.1518G>T