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: PA2827715654

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 538718

ClinVar RCV Id: RCV000648150 RCV003117454

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340126.2:p.Arg681His	CA200798439 NM_001353197.2:c.2042G>A