ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573093156
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56589
ClinVar RCV Id:
RCV000050002
RCV001269853
RCV001853064
RCV002513696
RCV003460642
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Arg605His
CA263958
NM_017739.4:c.1814G>A