ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915970216
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077076.1:p.Val949Ile
CA5138190
NM_001083607.3:c.2845G>A