ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826336266
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1016020
ClinVar RCV Id:
RCV001314962
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230695.2:p.Val545Ala
CA340171783
NM_001243766.2:c.1634T>C