ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827714250
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
957859
ClinVar RCV Id:
RCV001230922
RCV003490144
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340124.1:p.Arg361Gln
CA375311969
NM_001353195.2:c.1082G>A