ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573093132
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
422459
ClinVar RCV Id:
RCV000479982
RCV000984206
RCV000984207
RCV000984209
RCV000984208
RCV001368114
RCV002525910
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Arg488Gln
CA833361
NM_017739.4:c.1463G>A