ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139679185
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000255.2:p.His817Arg
CA374114131
NM_000264.5:c.2450A>G