ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828535856
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
805233
ClinVar RCV Id:
RCV000992695
RCV001858753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361618.1:p.Ala448Thr
CA5293665
NM_001374689.1:c.1342G>A