ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825487278
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1404536
ClinVar RCV Id:
RCV001901694
RCV002458770
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Ala1058Val
CA5138163
NM_001083602.3:c.3173C>T