ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825497117
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1730541
ClinVar RCV Id:
RCV002321009
RCV003471333
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Leu1118Val
CA374111841
NM_001083603.3:c.3352C>G