ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825510890
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2626237
ClinVar RCV Id:
RCV003382217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077075.1:p.Ser992Cys
CA374111695
NM_001083606.3:c.2975C>G