ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573093127
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291115
ClinVar RCV Id:
RCV000286944
RCV002518158
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Arg486Leu
CA10607023
NM_017739.4:c.1457G>T