ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826336165
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167526
ClinVar RCV Id:
RCV000153761
RCV000622475
RCV002516093
RCV002516092
RCV003888594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230695.2:p.Arg497Gln
CA234712
NM_001243766.2:c.1490G>A