Canonical Allele Identifier: PA2580138062
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2497341
ClinVar RCV Id: RCV003213796
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Asp959Glu
CA374111889
NM_001083607.3:c.2877C>G
CA374111890
NM_001083607.3:c.2877C>A