ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826335179
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
471406
ClinVar RCV Id:
RCV000554424
RCV000591176
RCV001200051
RCV001834803
RCV002530069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230695.2:p.Arg129Gln
CA833755
NM_001243766.2:c.386G>A