ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825119770
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2564362
ClinVar RCV Id:
RCV003310860
RCV003502721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000255.2:p.His375Leu
CA374119414
NM_000264.5:c.1124A>T