ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA349397
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Arg959His
CA349395
NM_001083602.3:c.2876G>A