Canonical Allele Identifier: PA2825122031
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1730790
ClinVar RCV Id: RCV002451799
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Leu1127Val
CA374111788
NM_000264.5:c.3379C>G