ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916008061
Gene: POMT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
647612
ClinVar RCV Id:
RCV000802157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_037514.2:p.His139Arg
CA390520959
NM_013382.7:c.416A>G