ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915970262
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216380
ClinVar RCV Id:
RCV000199513
RCV001020051
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077076.1:p.Val965Glu
CA338689
NM_001083607.3:c.2894T>A