ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580138092
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1950217
ClinVar RCV Id:
RCV002671596
RCV004066866
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077076.1:p.Met971Thr
CA374111817
NM_001083607.3:c.2912T>C