Canonical Allele Identifier: PA101119
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8224
ClinVar RCV Id: RCV000008707 RCV000034570 RCV000121888 RCV000148761 RCV000574977 RCV001081022 RCV004547468
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Thr1052Met
CA161680
NM_000264.5:c.3155C>T