Canonical Allele Identifier: PA2825512125
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 524525
ClinVar RCV Id: RCV000628358
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Lys240Arg
CA374119295
NM_001083607.3:c.719A>G