ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645501312
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000228691
RCV001596986
RCV002057057
ClinVar Variation:
224703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Met210Thr
CA7286147
NM_013382.7:c.629T>C