ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825122057
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
960138
ClinVar RCV Id:
RCV001233608
RCV003166434
RCV003462793
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000255.2:p.Leu1134Val
CA374111748
NM_000264.5:c.3400C>G