Canonical Allele Identifier: PA658677580
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 453848
ClinVar RCV Id: RCV000558601 RCV002323898 RCV003459158
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Val1116Met
CA5138165
NM_000264.5:c.3346G>A