ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828034449
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1484465
ClinVar RCV Id:
RCV002005815
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341847.1:p.His1069Arg
CA374111825
NM_001354918.1:c.3206A>G