ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580295664
Gene: PTCH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003729.3:p.His331Tyr
CA21747633
NM_003738.5:c.991C>T