ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825817228
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1372872
ClinVar RCV Id:
RCV001874894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129586.1:p.Leu587Phe
CA375315280
NM_001136114.2:c.1759C>T