ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573069517
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
162590
ClinVar RCV Id:
RCV000648197
RCV000763937
RCV001272275
RCV003129788
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277058.2:p.Arg85Ser
CA295425
NM_001290129.2:c.253C>A