ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826335066
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000407599
RCV000524954
RCV000763938
RCV001275757
RCV002518127
ClinVar Variation:
290280
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230695.2:p.Arg90His
CA833803
NM_001243766.2:c.269G>A