ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826776540
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3216726
ClinVar RCV Id:
RCV004514589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277059.2:p.Lys395Arg
CA340171831
NM_001290130.2:c.1184A>G