ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826247970
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_001186710.1:p.Arg549Gln
CA6714638
NM_001199781.2:c.1646G>A