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: PA2825817106

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 488581

ClinVar RCV Id: RCV000578259

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001129586.1:p.Leu524Phe	CA5293879 NM_001136114.2:c.1570C>T