Canonical Allele Identifier: PA2825512070
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1017322
ClinVar RCV Id: RCV001316454 RCV002447338
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Met212Ile
CA374119497
NM_001083607.3:c.636G>T
CA374119498
NM_001083607.3:c.636G>C
CA374119499
NM_001083607.3:c.636G>A