ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825447122
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
651359
ClinVar RCV Id:
RCV000806701
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070834.1:p.Ile515Leu
CA375313582
NM_001077366.2:c.1543A>C