ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825122097
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3231014
ClinVar RCV Id:
RCV004523128
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000255.2:p.Ile1148Leu
CA374111661
NM_000264.5:c.3442A>C