ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645501335
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282839
ClinVar RCV Id:
RCV000725152
RCV001081512
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Ala217Thr
CA7286137
NM_013382.7:c.649G>A