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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:
CA1866666642
Gene: PTCSC2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1830588722
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97851736del , CM000671.2:g.97851736del
GRCh38
NC_000009.11:g.100614018del , CM000671.1:g.100614018del
GRCh37
NC_000009.10:g.99653839del
NCBI36
NG_011979.1:g.3482del
Transcript Alleles
HGVS
Amino-acid change
XR_930158.1:n.218+1141del
XR_930159.1:n.218+1141del
XR_930160.1:n.218+1141del
XR_930161.1:n.218+1141del
NR_147055.1:n.165+1181del
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