ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA072701
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
221968
ClinVar RCV Id:
RCV000207421
RCV000791706
RCV002433914
RCV003477709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000255.2:p.Ile899Val
CA072669
NM_000264.5:c.2695A>G