ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573069515
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95759
ClinVar RCV Id:
RCV000081803
RCV000312026
RCV000369008
RCV000667593
RCV001079365
RCV000710196
RCV001449947
RCV004528294
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277058.2:p.Val79Ile
CA148807
NM_001290129.2:c.235G>A