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: PA2827715958

Gene: POMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95455

ClinVar RCV Id: RCV000081480 RCV000391550 RCV000576701 RCV000560291 RCV001701739

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340127.2:p.Asp379Glu	CA148548 NM_001353198.2:c.1137C>A CA5293591 NM_001353198.2:c.1137C>G