ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573093085
Gene: POMGNT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
71246
ClinVar RCV:
RCV000050020
ClinVar Variation:
56607
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Cys269Tyr
CA263987
NM_017739.4:c.806G>A