ClinGen Allele Registry
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Canonical Allele Identifier:
PA116541
Gene: POMGNT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230695.1:p.Ser550Asn
CA116540
NM_001243766.1:c.1649G>A