ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573093092
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3993
ClinVar RCV Id:
RCV000049989
RCV001370524
RCV001582464
RCV001847574
RCV002509144
RCV002512739
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Arg311Gln
CA211242
NM_017739.4:c.932G>A