ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826776002
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000153761
RCV000622475
RCV002516092
RCV002516093
RCV003888594
ClinVar Variation:
167526
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277058.2:p.Arg475Gln
CA234712
NM_001290129.2:c.1424G>A