ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827714242
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
999084
ClinVar RCV Id:
RCV001295034
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001340124.1:p.Trp347Gly
CA375311805
NM_001353195.2:c.1039T>G