ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825493129
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Glu373Lys
CA5138756
NM_001083603.3:c.1117G>A