ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658806606
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000596814
RCV001854096
RCV003258885
ClinVar Variation:
501825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Val234Ile
CA7286103
NM_013382.7:c.700G>A