Canonical Allele Identifier: PA2828034188
Gene: PTCH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8224
ClinVar RCV Id: RCV000008707 RCV000034570 RCV000121888 RCV000148761 RCV000574977 RCV001081022 RCV004547468
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Thr1000Met
CA161680
NM_001354918.1:c.2999C>T