ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826775863
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538746
ClinVar RCV Id:
RCV000648205
RCV001835049
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277058.2:p.Arg345Cys
CA833501
NM_001290129.2:c.1033C>T