×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1866690955
Gene: PTCSC2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1830044376
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97793794del , CM000671.2:g.97793794del
GRCh38
NC_000009.11:g.100556076del , CM000671.1:g.100556076del
GRCh37
NC_000009.10:g.99595897del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_930161.1:n.363+16103del
XR_930162.1:n.6479del
NR_147055.1:n.777+10459del
Search 100 bp 5'
Search 100 bp 3'