ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825504009
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_001077073.1:p.Ala979Val
CA374111768
NM_001083604.3:c.2936C>T