ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139743519
Gene: POMT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000081491
ClinVar Variation:
95465
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361622.1:p.Arg97Thr
CA223001
NM_001374693.1:c.290G>C