ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825447200
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373779
ClinVar RCV Id:
RCV000413914
RCV002506004
RCV002524658
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070834.1:p.Arg546Leu
CA5293830
NM_001077366.2:c.1637G>T