ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825446808
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218515
ClinVar RCV Id:
RCV000203138
RCV001079894
RCV000724979
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070834.1:p.Val381Ile
CA249339
NM_001077366.2:c.1141G>A