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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:
CA2689879138
Gene: RMRP
HGNC
NCBI
Linked Data
gnomAD v4:
9-35657775-G-GTGTGGTTGGTGCGCGGACACGCAC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.35657778_35657801dup , CM000671.2:g.35657778_35657801dup
GRCh38
NC_000009.11:g.35657775_35657798dup , CM000671.1:g.35657775_35657798dup
GRCh37
NC_000009.10:g.35647775_35647798dup
NCBI36
NG_017041.1:g.5220_5243dup , LRG_163:g.5220_5243dup
NG_033120.1:g.4489_4512dup
Transcript Alleles
HGVS
Amino-acid change
NR_003051.3:n.220_243dup , LRG_163t1:n.220_243dup
Search 100 bp 5'
Search 100 bp 3'