ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139720882
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
948206
ClinVar RCV Id:
RCV001219419
RCV001833905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Pro8Thr
CA833895
NM_017739.4:c.22C>A