ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825497049
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219475
ClinVar RCV Id:
RCV000204886
RCV001019931
RCV002508197
RCV003462362
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077072.1:p.Thr1105Met
CA349072
NM_001083603.3:c.3314C>T