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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825507759
Gene: PTCH1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41659
ClinVar RCV Id:
RCV000034571
RCV000537682
RCV001019424
RCV001535776
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077074.1:p.Val932Met
CA215710
NM_001083605.3:c.2794G>A