ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826776557
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000004204
RCV000081801
RCV000671438
RCV000710195
RCV001082774
RCV001097781
RCV001449938
RCV001579237
RCV001579238
ClinVar Variation:
3997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277059.2:p.Asp413Asn
CA116557
NM_001290130.2:c.1237G>A