ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830118744
Gene: PCDH15
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149045.3:p.Ser1837Phe
CA5505020
NM_033056.4:c.5510C>T