ClinGen Allele Registry
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Canonical Allele Identifier:
PA645501474
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
260291
ClinVar RCV Id:
RCV000249376
RCV000524642
RCV001116051
RCV000658700
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.Lys417Arg
CA7285921
NM_013382.7:c.1250A>G