ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828536934
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471375
ClinVar RCV Id:
RCV000558807
RCV003459248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361620.1:p.Trp347Ser
CA5293687
NM_001374691.1:c.1040G>C