×
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:
CA2580080432
Gene: RMRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2174309
ClinVar RCV Id:
RCV002585138
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.35657778dup , CM000671.2:g.35657778dup
GRCh38
NC_000009.11:g.35657775dup , CM000671.1:g.35657775dup
GRCh37
NC_000009.10:g.35647775dup
NCBI36
NG_017041.1:g.5241dup , LRG_163:g.5241dup
NG_033120.1:g.4489dup
Transcript Alleles
HGVS
Amino-acid change
NR_003051.3:n.241dup , LRG_163t1:n.241dup
Search 100 bp 5'
Search 100 bp 3'