Canonical Allele Identifier: PA658827755
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 547923
ClinVar RCV Id: RCV000660493
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Phe1104Leu
CA374111923
NM_000264.5:c.3312T>G
CA374111924
NM_000264.5:c.3312T>A
CA374111930
NM_000264.5:c.3310T>C