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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
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Canonical Allele Identifier:
CA1306599541
Gene: PTCHD3P2
HGNC
NCBI
KLHL23
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.169767628_169767629delinsGC , CM000664.2:g.169767628_169767629delinsGC
GRCh38
NC_000002.11:g.170624138_170624139delinsGC , CM000664.1:g.170624138_170624139delinsGC
GRCh37
NC_000002.10:g.170332384_170332385delinsGC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000424937.1:n.1087+84_1087+85delinsGC
(PTCHD3P2)
ENST00000437875.1:c.830-5692_830-5691delinsGC
(KLHL23)
ENSP00000394732.1:n.830-5692_830-5691delinsGC
ENST00000448589.1:c.46-8813_46-8812delinsGC
(KLHL23)
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