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: PA2827717015

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 538722

ClinVar RCV Id: RCV000648158 RCV000733057 RCV004544878

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340129.1:p.Arg292Cys	CA5293658 NM_001353200.2:c.874C>T