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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:
CA197059160
Gene: PTCSC2
HGNC
NCBI
Linked Data
dbSNP Id:
rs138209404
MyVariant Identifiers:
chr9:g.100615049_100615056del (hg19)
chr9:g.97852767_97852774del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97852767_97852774del , CM000671.2:g.97852767_97852774del
GRCh38
NC_000009.11:g.100615049_100615056del , CM000671.1:g.100615049_100615056del
GRCh37
NC_000009.10:g.99654870_99654877del
NCBI36
NG_011979.1:g.4513_4520del
Transcript Alleles
HGVS
Amino-acid change
XR_930158.1:n.218+102_218+109del
XR_930159.1:n.218+102_218+109del
XR_930160.1:n.218+102_218+109del
XR_930161.1:n.218+102_218+109del
NR_147055.1:n.165+142_165+149del
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