ClinGen Allele Registry
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Canonical Allele Identifier:
PA645501555
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
282171
ClinVar RCV Id:
RCV000283624
RCV001859556
RCV004021100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Gly691Val
CA7285553
NM_013382.7:c.2072G>T