ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825817263
Gene: POMT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2287454
ClinVar RCV Id:
RCV002831769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129586.1:p.Ile605Val
CA375315492
NM_001136114.2:c.1813A>G