×
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:
CA923900863
Gene: RBMY1KP
HGNC
NCBI
Linked Data
dbSNP Id:
rs2089967691
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.22213729T>A , CM000686.2:g.22213729T>A
GRCh38
NC_000024.9:g.24359876T>A , CM000686.1:g.24359876T>A
GRCh37
NC_000024.8:g.22769264T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000423480.1:n.361+1128T>A
Search 100 bp 5'
Search 100 bp 3'