ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825488275
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
958443
ClinVar RCV Id:
RCV001231612
RCV002436903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Lys304Arg
CA5138758
NM_001083602.3:c.911A>G