×
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:
CA1838163546
Gene: SLC24A2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.20145890_20145893delinsTTTG , CM000671.2:g.20145890_20145893delinsTTTG
GRCh38
NC_000009.11:g.20145888_20145891delinsTTTG , CM000671.1:g.20145888_20145891delinsTTTG
GRCh37
NC_000009.10:g.20135888_20135891delinsTTTG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_017014592.1:c.-528-141506_-528-141503delinsCAAA
XP_016870081.1:n.-528-141506_-528-141503d...
Search 100 bp 5'
Search 100 bp 3'