ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825510895
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409155
ClinVar RCV Id:
RCV000459818
RCV001020304
RCV002481435
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077075.1:p.Asp995Asn
CA5138155
NM_001083606.3:c.2983G>A