ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139703452
Gene: PTCH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003729.3:p.Ala523Val
CA823271
NM_003738.5:c.1568C>T