ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673449
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448119
ClinVar RCV Id:
RCV000518653
RCV000728228
RCV001241622
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Ser269Asn
CA7286089
NM_013382.7:c.806G>A