Allele Registry

Canonical Allele Identifier: PA161708

Gene: PTCH1 HGNC NCBI

ClinVar RCV:

RCV000121893

RCV000127647

RCV000266478

RCV000361116

RCV000492383

ClinVar Variation:

135100

HGVS (amino-acid)	Matching Registered Transcripts
NP_000255.2:p.Thr1195Ser	CA161704 NM_000264.5:c.3583A>T