ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826776476
Gene: POMGNT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000407481
RCV000559267
RCV001277250
ClinVar Variation:
288113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277059.2:p.Arg342His
CA833367
NM_001290130.2:c.1025G>A