ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826335592
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1209778
ClinVar RCV Id:
RCV001579104
RCV001579101
RCV001579103
RCV001579102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230695.2:p.Arg267Cys
CA833600
NM_001243766.2:c.799C>T