ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825510861
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216381
ClinVar RCV Id:
RCV000196599
RCV001020163
RCV003441778
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077075.1:p.Ala979Thr
CA336551
NM_001083606.3:c.2935G>A