ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825816767
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1426737
ClinVar RCV Id:
RCV001929572
RCV004044330
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129586.1:p.Val355Ile
CA200795161
NM_001136114.2:c.1063G>A