ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828920249
Gene: PJA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3213391
ClinVar RCV Id:
RCV004506294
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369704.1:p.Ala588Thr
CA10438314
NM_001382775.1:c.1762G>A