ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826335036
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451139
ClinVar RCV Id:
RCV000521285
RCV000540487
RCV001829507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230695.2:p.Arg84His
CA833808
NM_001243766.2:c.251G>A