ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825507835
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2006893
ClinVar RCV Id:
RCV002837976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077074.1:p.Leu966Val
CA374111852
NM_001083605.3:c.2896C>G