ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825122103
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1925122
ClinVar RCV Id:
RCV002618011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000255.2:p.Val1149Asp
CA374111652
NM_000264.5:c.3446T>A