ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915973420
Gene: PLCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124432.1:p.Pro1619Thr
CA2675877
NM_001130960.2:c.4855C>A