Canonical Allele Identifier: PA2825507886
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3231013
ClinVar RCV Id: RCV004523127
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077074.1:p.Met988Leu
CA374111720
NM_001083605.3:c.2962A>C
CA374111721
NM_001083605.3:c.2962A>T