ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA071615
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
221931
ClinVar RCV Id:
RCV000456174
RCV000207365
RCV004547503
RCV001019083
RCV003477708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Thr998Met
CA071573
NM_001083602.3:c.2993C>T