ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826775573
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000521285
RCV000540487
RCV001829507
ClinVar Variation:
451139
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277058.2:p.Arg62His
CA833808
NM_001290129.2:c.185G>A