ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825496027
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
221968
ClinVar RCV Id:
RCV000207421
RCV000791706
RCV002433914
RCV003477709
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Ile898Val
CA072669
NM_001083603.3:c.2692A>G