ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677847
Gene: PTCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077071.1:p.Ala85Ser
CA5138937
NM_001083602.3:c.253G>T