ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826776552
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3988
ClinVar RCV Id:
RCV000169201
RCV001847570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277059.2:p.Ser407Asn
CA116540
NM_001290130.2:c.1220G>A