ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573093060
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288596
ClinVar RCV Id:
RCV000292083
RCV001272276
RCV002521993
RCV001057584
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Arg89Gln
CA833805
NM_017739.4:c.266G>A