ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826775770
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56607
ClinVar RCV Id:
RCV000050020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277058.2:p.Cys247Tyr
CA263987
NM_001290129.2:c.740G>A