ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825497128
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1040630
ClinVar RCV Id:
RCV001344306
RCV003169660
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Met1121Val
CA374111821
NM_001083603.3:c.3361A>G