ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139721171
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
872289
ClinVar RCV Id:
RCV001092677
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Asp416His
CA340176707
NM_017739.4:c.1246G>C