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: PA2827715074

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3244

ClinVar RCV Id: RCV002286389 RCV003460408 RCV002512705

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340126.2:p.Gly11Arg	CA116108 NM_001353197.2:c.31G>A CA375305697 NM_001353197.2:c.31G>C