ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825507878
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
428842
ClinVar RCV Id:
RCV000492191
RCV001036728
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077074.1:p.Leu984Pro
CA374111741
NM_001083605.3:c.2951T>C