ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826030541
Gene: PTCH2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159764.1:p.Ala523Val
CA823271
NM_001166292.2:c.1568C>T