ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826776116
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000050002
RCV001269853
RCV001853064
RCV002513696
RCV003460642
ClinVar Variation:
56589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277058.2:p.Arg583His
CA263958
NM_001290129.2:c.1748G>A