ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825492239
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453908
ClinVar RCV Id:
RCV000526834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Cys202Tyr
CA374115112
NM_001083603.3:c.605G>A