Allele Registry

Canonical Allele Identifier: PA2825513743

Gene: PTCH1 HGNC NCBI

ClinVar RCV:

RCV000121893

RCV000127647

RCV000266478

RCV000361116

RCV000492383

ClinVar Variation:

135100

HGVS (amino-acid)	Matching Registered Transcripts
NP_001077076.1:p.Thr1044Ser	CA161704 NM_001083607.3:c.3130A>T