ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825504099
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2897407
ClinVar RCV Id:
RCV003610921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077073.1:p.Arg999Gly
CA5138153
NM_001083604.3:c.2995A>G