Canonical Allele Identifier: PA2825118989
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Asn124Lys
CA5138977
NM_000264.5:c.372C>G
CA374120177
NM_000264.5:c.372C>A