ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825497189
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
960138
ClinVar RCV Id:
RCV001233608
RCV003166434
RCV003462793
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Leu1133Val
CA374111748
NM_001083603.3:c.3397C>G