ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825503995
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1353672
ClinVar RCV Id:
RCV001863538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077073.1:p.Val975Phe
CA374111793
NM_001083604.3:c.2923G>T