Canonical Allele Identifier: PA2825510864
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3231012
ClinVar RCV Id: RCV004523126
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077075.1:p.Val980Leu
CA374111764
NM_001083606.3:c.2938G>T
CA374111765
NM_001083606.3:c.2938G>C