ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829875329
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000050019
RCV002514268
RCV003466919
ClinVar Variation:
56606
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Glu223Lys
CA263984
NM_017739.4:c.667G>A