ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828535791
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289043
ClinVar RCV Id:
RCV000268753
RCV002518064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361618.1:p.Asp373Asn
CA10606306
NM_001374689.1:c.1117G>A