ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825497099
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453848
ClinVar RCV Id:
RCV000558601
RCV002323898
RCV003459158
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Val1115Met
CA5138165
NM_001083603.3:c.3343G>A