ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891854072
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
569111
ClinVar RCV Id:
RCV000689655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Pro696Leu
CA390513496
NM_013382.7:c.2087C>T