Canonical Allele Identifier: PA2742022619
Gene: PTCHD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_775766.2:p.Lys181Asn
CA412579947
NM_173495.3:c.543G>C
CA412579948
NM_173495.3:c.543G>T