ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829875983
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000153761
RCV000622475
RCV002516092
RCV002516093
RCV003888594
ClinVar Variation:
167526
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Arg497Gln
CA234712
NM_017739.4:c.1490G>A