ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658811321
Gene: PTCH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003729.3:p.Ile533Thr
CA823229
NM_003738.5:c.1598T>C