ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826336512
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000362367
RCV001085021
ClinVar Variation:
288627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230695.2:p.Asn633His
CA10606162
NM_001243766.2:c.1897A>C