ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826248000
Gene: POC1B-GALNT4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3098178
ClinVar RCV Id:
RCV004392563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186711.1:p.Arg380Gln
CA6714638
NM_001199782.1:c.1139G>A