ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092874
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3225
ClinVar RCV Id:
RCV000003381
RCV000081563
RCV001240349
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Arg413Pro
CA223063
NM_013382.7:c.1238G>C