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: PA2827715589

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3250

ClinVar RCV Id: RCV000414180 RCV000694423 RCV002286394 RCV003460409

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340126.2:p.Ala615Thr	CA116114 NM_001353197.2:c.1843G>A