ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825487283
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
823707
ClinVar RCV Id:
RCV001020167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Ala1064Val
CA374111768
NM_001083602.3:c.3191C>T