ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826776278
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
254270
ClinVar RCV Id:
RCV000240954
RCV001333961
RCV001854940
RCV003479082
RCV003133196
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277059.2:p.Ile144Ser
CA833593
NM_001290130.2:c.431T>G