Canonical Allele Identifier: PA2825512090
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2564362
ClinVar RCV Id: RCV003310860 RCV003502721
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.His224Leu
CA374119414
NM_001083607.3:c.671A>T