ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825507177
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453823
ClinVar RCV Id:
RCV000544815
RCV002448594
RCV002481742
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077074.1:p.Met652Thr
CA374114313
NM_001083605.3:c.1955T>C