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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:
CA1866690971
Gene: PTCSC2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97793823_97793825delinsCAA , CM000671.2:g.97793823_97793825delinsCAA
GRCh38
NC_000009.11:g.100556105_100556107delinsCAA , CM000671.1:g.100556105_100556107delinsCAA
GRCh37
NC_000009.10:g.99595926_99595928delinsCAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_930161.1:n.363+16070_363+16072delinsTTG
XR_930162.1:n.6508_6510delinsCAA
NR_147055.1:n.777+10426_777+10428delinsTTG
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