ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573093131
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167527
ClinVar RCV Id:
RCV000153762
RCV001850105
RCV002492577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Arg488Gly
CA234715
NM_017739.4:c.1462C>G