ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825121962
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1350625
ClinVar RCV Id:
RCV002042005
RCV004038874
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000255.2:p.Asp1110Tyr
CA374111894
NM_000264.5:c.3328G>T