ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826776612
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000004205
RCV000671290
RCV000824425
RCV001268426
RCV002512740
RCV003322587
ClinVar Variation:
3998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277059.2:p.Arg462Pro
CA116560
NM_001290130.2:c.1385G>C