ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826776071
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2299630
ClinVar RCV Id:
RCV002869048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277058.2:p.Asp542Asn
CA340171518
NM_001290129.2:c.1624G>A