ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826335497
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373719
ClinVar RCV Id:
RCV000413042
RCV000873590
RCV001096118
RCV001096117
RCV004544726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230695.2:p.Ser233Phe
CA833641
NM_001243766.2:c.698C>T