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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:
CA1866668311
Gene: PTCSC2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97852734_97852735delinsTG , CM000671.2:g.97852734_97852735delinsTG
GRCh38
NC_000009.11:g.100615016_100615017delinsTG , CM000671.1:g.100615016_100615017delinsTG
GRCh37
NC_000009.10:g.99654837_99654838delinsTG
NCBI36
NG_011979.1:g.4480_4481delinsTG
Transcript Alleles
HGVS
Amino-acid change
XR_930158.1:n.218+141_218+142delinsCA
XR_930159.1:n.218+141_218+142delinsCA
XR_930160.1:n.218+141_218+142delinsCA
XR_930161.1:n.218+141_218+142delinsCA
NR_147055.1:n.165+181_165+182delinsCA
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