ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139737883
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341847.1:p.Lys348Arg
CA374119608
NM_001354918.1:c.1043A>G