ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826776256
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000049988
RCV000250383
RCV001045717
ClinVar Variation:
56575
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277059.2:p.Arg122His
CA263935
NM_001290130.2:c.365G>A