ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826336125
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286190
ClinVar RCV Id:
RCV000312122
RCV000648194
RCV001535608
RCV004021195
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230695.2:p.Arg486Gln
CA833364
NM_001243766.2:c.1457G>A