ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573069545
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56606
ClinVar RCV Id:
RCV000050019
RCV003466919
RCV002514268
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277059.2:p.Glu80Lys
CA263984
NM_001290130.2:c.238G>A