ClinGen Allele Registry
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Canonical Allele Identifier:
PA645486093
Gene: PCDH19
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001171809.1:p.Asp479Asn
NM_001184880.2:c.1435G>A