Canonical Allele Identifier: PA2825119749
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1460758
ClinVar RCV Id: RCV001965523
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Phe364Leu
CA374119489
NM_000264.5:c.1092C>G
CA374119490
NM_000264.5:c.1092C>A
CA374119495
NM_000264.5:c.1090T>C