ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825503954
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2098194
ClinVar RCV Id:
RCV003019135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077073.1:p.Ala967Ser
CA5138164
NM_001083604.3:c.2899G>T