ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830117334
Gene: PCDH15
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1064917
ClinVar RCV Id:
RCV001375132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149045.3:p.Ile129Ser
CA376542254
NM_033056.4:c.386T>G