ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573067780
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1339913
ClinVar RCV Id:
RCV001825296
RCV002034688
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230695.2:p.Thr650Ile
CA833179
NM_001243766.2:c.1949C>T