Canonical Allele Identifier: PA2825496866
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 221931
ClinVar RCV Id: RCV000456174 RCV000207365 RCV004547503 RCV001019083 RCV003477708
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Thr1063Met
CA071573
NM_001083603.3:c.3188C>T