ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826776330
Gene: POMGNT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000324220
RCV000763934
RCV001855150
RCV002518961
RCV003888676
ClinVar Variation:
285192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277059.2:p.Ile194Thr
CA833537
NM_001290130.2:c.581T>C