ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825492292
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
826366
ClinVar RCV Id:
RCV002552394
RCV001025198
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Thr212Ala
CA374115047
NM_001083603.3:c.634A>G