ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826775938
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000150001
RCV000984210
RCV000984301
RCV000984302
RCV000984303
RCV001219572
RCV001847573
RCV002222337
RCV002512738
ClinVar Variation:
3992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277058.2:p.Arg420Cys
CA116547
NM_001290129.2:c.1258C>T