ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826336178
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
254274
ClinVar RCV Id:
RCV000240894
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230695.2:p.Gly502Ala
CA10586397
NM_001243766.2:c.1505G>C