Canonical Allele Identifier: PA2825119744
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1017322
ClinVar RCV Id: RCV001316454 RCV002447338
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Met363Ile
CA374119497
NM_000264.5:c.1089G>T
CA374119498
NM_000264.5:c.1089G>C
CA374119499
NM_000264.5:c.1089G>A