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: PA2827717200

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365282

ClinVar RCV Id: RCV000374315 RCV000821958

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340129.1:p.Gly471Ser	CA5293874 NM_001353200.2:c.1411G>A